Testing Criteria

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Testing criteria Disorders Genes Date
RASopathies and Pigmentary Disorders 83 Gene Exome Panel
  • Albinism, Oculocutaneous, Type Ia
    • Albinism I
    • Oculocutaneous Albinism, Type I
    • Oculocutaneous Albinism, Tyrosinase-Negative
  • Albinism, Oculocutaneous, Type Ib
  • Albinism, Oculocutaneous, Type II
  • Albinism, Oculocutaneous, Type III
    • Albinism III
    • Oculocutaneous Albinism, Type III
    • Rufous Oculocutaneous Albinism
    • Xanthism
  • Albinism, Oculocutaneous, Type IV
  • Albinism, Oculocutaneous, Type VI
  • Amyloidosis, Primary Localized Cutaneous, 1
  • Bannayan-Riley-Ruvalcaba Syndrome
    • Bannayan-Zonana Syndrome
    • Macrocephaly, Multiple Lipomas, And Hemangiomata
    • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
    • Riley-Smith Syndrome, Included
    • Ruvalcaba-Myhre-Smith Syndrome
  • Cardiofaciocutaneous Syndrome 1
    • CFC Syndrome
  • Cardiofaciocutaneous Syndrome 3
  • Cardiofaciocutaneous Syndrome 4
  • Carney Complex, Type 1
    • Carney Myxoma-Endocrine Complex
    • Carney Syndrome
    • Lamb Syndrome
    • Myxoma, Spotty Pigmentation, And Endocrine Overactivity
    • Name Syndrome
  • Chediak-Higashi Syndrome
  • Chondrodysplasia Punctata 1, X-Linked Recessive
    • Chondrodysplasia Punctata, Brachytelephalangic
    • Cpxr
  • Cole Disease
  • Costello Syndrome
    • Faciocutaneoskeletal Syndrome
    • Fcs Syndrome
  • Cowden Syndrome 1
    • Cerebellar Granule Cell Hypertrophy And Megalencephaly, Included
    • Cerebelloparenchymal Disorder VI, Included
    • Cowden Disease
    • Cowden Syndrome
    • Cowden-Like Syndrome, Included
    • Dysplastic Gangliocytoma Of The Cerebellum, Included
    • Lhermitte-Duclos Disease, Included
    • Multiple Hamartoma Syndrome
  • Dermatopathia Pigmentosa Reticularis
  • Dowling-Degos Disease 1
  • Dowling-Degos Disease 2
    • .
  • Dowling-Degos Disease 4
  • Dyschromatosis Symmetrica Hereditaria
    • Dyschromatosis Symmetrica Hereditaria 1
    • Reticulate Acropigmentation Of Dohi
    • Symmetric Dyschromatosis Of The Extremities
  • Dyschromatosis Universalis Hereditaria 3
  • Dyskeratosis Congenita, Autosomal Dominant, 1
    • Dyskeratosis Congenita, Scoggins Type
  • Dyskeratosis Congenita, Autosomal Dominant, 2
  • Dyskeratosis Congenita, Autosomal Dominant, 3
  • Dyskeratosis Congenita, Autosomal Recessive, 1
  • Dyskeratosis Congenita, Autosomal Recessive, 3
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • Epidermolysis Bullosa Simplex With Migratory Circinate Erythema
  • Epidermolysis Bullosa Simplex With Mottled Pigmentation
  • Erythrokeratodermia Variabilis Et Progressiva
    • Erythrokeratodermia Figurata, Congenital Familial, In Plaques
    • Erythrokeratodermia Variabilis
    • Erythrokeratodermia Variabilis With Erythema Gyratum Repens
    • Erythrokeratodermia, Progressive Symmetric
  • Fanconi Anemia, Complementation Group N
    • Fanconi Anaemia, Complementation Group N
  • Fanconi Anemia, Complementation Group P
    • Fanconi Anaemia, Complementation Group P
  • Focal Dermal Hypoplasia
    • Fodh|Goltz Syndrome
    • Goltz-Gorlin Syndrome
  • Griscelli Syndrome, Type 1
    • Griscelli Syndrome with Neurologic Impairment
    • Griscelli Syndrome, Cutaneous and Neurologic Type
    • Partial Albinism and Primary Neurologic Disease without Hemophagocytic Syndrome
  • Griscelli Syndrome, Type 2
    • Griscelli Syndrome With Hemophagocytic Syndrome
    • Paid Syndrome
    • Partial Albinism And Immunodeficiency Syndrome
  • Hermansky-Pudlak Syndrome 1
    • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
  • Hermansky-Pudlak Syndrome 2
  • Histiocytosis-Lymphadenopathy Plus Syndrome
    • Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness|Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without H
  • Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
  • Hypotrichosis-Lymphedema-Telangiectasia Syndrome
  • Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
  • Keratosis, Seborrheic
  • Legius Syndrome
    • Neurofibromatosis, Type 1-Like Syndrome
  • Leopard Syndrome 1
    • Lentiginosis, Cardiomyopathic
    • Multiple Lentigines Syndrome
  • Leopard Syndrome 2
  • Mast Cell Disease
  • McCune-Albright Syndrome
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • Melanocytic Nevus Syndrome, Congenital
  • Melanoma, Cutaneous Malignant, Susceptibility To, 3
  • Melanoma, Cutaneous Malignant, Susceptibility To, 5
  • Melanoma-Astrocytoma Syndrome
    • Melanoma And Neural System Tumor Syndrome
  • Melanosis, Neurocutaneous
  • Mismatch Repair Cancer Syndrome
    • Brain Tumor-Polyposis Syndrome 1
    • Btp1 Syndrome
    • Childhood Cancer Syndrome
    • Mismatch Repair Deficiency
    • Mmr Deficiency
    • Turcot Syndrome
  • Naegeli-Franceschetti-Jadassohn Syndrome
    • Naegeli Syndrome
    • NFJ Syndrome
  • Neurofibromatosis, Type I
    • Neurofibromatosis
    • Neurofibromatosis, Type I, With Glioma, Included
    • Neurofibromatosis, Type I, With Leukemia, Included
    • Neurofibromin, Included
    • Von Recklinghausen Disease
  • Neurofibromatosis, Type II
    • Acoustic Neurinoma, Bilateral
    • Acoustic Schwannomas, Bilateral
    • Bilateral Acoustic Neurofibromatosis
    • Neurofibromatosis, Central Type
  • Nevus, Epidermal
    • Nevus, Keratinocytic, Nonepidermolytic
    • Pigmented Moles
  • Noonan Syndrome 1
    • Female Pseudo-Turner Syndrome
    • Male Turner Syndrome
    • Noonan Syndrome
    • Pterygium Colli Syndrome, Included
    • Turner Phenotype With Normal Karyotype
  • Noonan Syndrome 3
  • Noonan Syndrome 4
  • Noonan Syndrome 5
  • Noonan Syndrome 6
  • Noonan Syndrome 8
  • Noonan Syndrome-Like Disorder With Loose Anagen Hair
    • Tosti Syndrome
  • Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
    • CBL Mutation-Associated Syndrome
    • CBL Syndrome
  • Palmoplantar Keratoderma With Congenital Alopecia
    • Keratoderma-Hypotrichosis-Leukonychia
    • PPKCA, Stevanovic Type
    • Totalis Syndrome
  • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Waardenburg-Shah Syndrome, Neurologic Variant
  • Peutz-Jeghers Syndrome
    • Polyposis, Hamartomatous Intestinal
    • Polyps-And-Spots Syndrome
  • Piebald Trait
    • Piebaldism
  • Pigmented Nodular Adrenocortical Disease, Primary, 1
    • Adrenocortical Nodular Dysplasia, Primary
    • Cushing Syndrome, Adrenal, Due to PPNAD1
    • Pigmented Micronodular Adrenocortical Disease, Primary, 1
  • Poikiloderma With Neutropenia
    • Poikiloderma With Neutropenia, Clericuzio-Type
  • Reticulate Acropigmentation Of Kitamura
  • Revesz Syndrome
    • Dyskeratosis Congenita, Autosomal Dominant, 5
    • Exudative Retinopathy With Bone Marrow Failure
  • Rothmund-Thomson Syndrome
    • Poikiloderma Atrophicans And Cataract
  • Schimmelpenning-Feuerstein-Mims Syndrome
    • Epidermal Nevus Syndrome
    • Jadassohn Nevus Phakomatosis
    • Linear Sebaceous Nevus Syndrome
    • Nevus Sebaceus Of Jadassohn
    • Organoid Nevus Phakomatosis
    • Sebaceous Nevus Syndrome, Linear
    • SFM Syndrome
  • Sturge-Weber Syndrome
  • Terminal Osseous Dysplasia
    • ODPF Syndrome
    • Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula
    • Terminal Osseous Dysplasia And Pigmentary Defects
  • Tietz Albinism-Deafness Syndrome
    • Albinism-Deafness Of Tietz
    • Hypopigmentation/Deafness Of Tietz
    • Tietz Syndrome
  • Tuberous Sclerosis 1
    • Tuberose Sclerosis
    • Tuberous Sclerosis Complex
  • Tuberous Sclerosis 2
    • Tsc2 Angiomyolipomas, Renal, Modifier Of, Included
  • Tumor Predisposition Syndrome
  • Tumoral Calcinosis, Hyperphosphatemic, Familial
    • Calcinosis, Tumoral, With Hyperphosphatemia
    • Lipocalcinogranulomatosis
    • Morbus Teutschlaender
    • Teutschlaender Disease, Familial
    • Tumoral Calcinosis, Primary Hyperphosphatemic
  • Tumoral Calcinosis, Normophosphatemic, Familial
    • Calcinosis, Tumoral, With Normophosphatemia
  • Waardenburg Syndrome, Type 1
    • Waardenburg Syndrome With Dystopia Canthorum
  • Waardenburg Syndrome, Type 2A
    • Waardenburg Syndrome Without Dystopia Canthorum
    • Waardenburg Syndrome, Type IIA
  • Waardenburg Syndrome, Type 2D
    • Waardenburg Syndrome, Type IID
  • Waardenburg Syndrome, Type 2E
    • Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation
    • Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement
    • Waardenburg Syndrome, Type IIE
    • WS2E, With Or Without Neurologic Involvement
  • Waardenburg Syndrome, Type 3
    • Klein-Waardenburg Syndrome
    • Waardenburg Syndrome With Upper Limb Anomalies
    • Waardenburg Syndrome, Type III
  • Waardenburg Syndrome, Type 4A
    • Shah-Waardenburg Syndrome
    • Waardenburg Syndrome With Hirschsprung Disease, Type 4A
    • Waardenburg Syndrome, Type IVA
    • Waardenburg-Shah Syndrome
  • Waardenburg Syndrome, Type 4B
    • Waardenburg Syndrome, Type 4B, With Hirschsprung Disease
    • Waardenburg Syndrome, Type IVB
  • Waardenburg Syndrome, Type 4C
    • Waardenburg Syndrome With Hirschsprung Disease, Type 4C
    • Waardenburg Syndrome, Type IVC
  • ADAM metallopeptidase domain 10
    • a disintegrin and metalloproteinase domain 10
    • CD156c
    • HsT18717
    • kuz
  • adaptor related protein complex 3, beta 1 subunit
    • ADTB3A
    • HPS2
  • adenosine deaminase, RNA-specific
    • interferon-induced protein 4
  • arylsulfatase E (chondrodysplasia punctata 1)
  • ATP-binding cassette, sub-family B, member 6 (Langereis blood group)
    • EST45597
    • MTABC3
    • umat
  • ATP-binding cassette, sub-family D, member 4
  • B-Raf proto-oncogene, serine/threonine kinase
    • oncogene BRAF
    • v-raf murine sarcoma viral oncogene homolog B
    • v-raf murine sarcoma viral oncogene homolog B1
  • BRCA1 associated protein 1
    • BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
  • CBL proto-oncogene
    • Cas-Br-M (murine) ecotropic retroviral transforming sequence
    • casitas B-lineage lymphoma protooncogene
    • CBL proto-oncogene, E3 ubiquitin protein ligase
    • oncogene CBL
    • oncogene CBL2
  • cyclin-dependent kinase 4
    • cell division kinase 4
  • cyclin-dependent kinase inhibitor 2A
    • CDK4 inhibitor
    • cyclin-dependent kinase inhibitor 2A
    • cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
    • multiple tumor suppressor 1
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • ectonucleotide pyrophosphatase/phosphodiesterase 1
    • alkaline phosphodiesterase i
    • ly41, mouse, homolog of
    • membrane component, chromosome 6, surface marker 1
    • nucleotide pyrophosphatase
    • phosphodiesterase i/nucleotide pyrophosphatase 1
    • plasma cell membrane glycoprotein pc-1
  • endothelin 3
  • endothelin receptor type B
    • ETB
  • fibroblast growth factor 23
  • filamin A
    • actin-binding protein 280
    • alpha (actin binding protein 280)
    • filamin 1
    • filamin A
    • filamin A alpha
    • filamin, alpha
  • G protein subunit alpha 11
    • FBH
    • FBH2
    • FHH2
    • guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
  • G protein subunit alpha q
    • G-ALPHA-q
    • GAQ
  • gap junction protein, alpha 1
    • gap junction protein, alpha 1, 43kDa
    • gap junction protein, alpha 1, 43kDa (connexin 43)
    • gap junction protein, alpha-like
  • gap junction protein, beta 3
    • erythrokeratodermia variabilis
    • gap junction protein, beta 3, 31kD (connexin 31)
    • gap junction protein, beta 3, 31kDa
    • gap junction protein, beta 3, 31kDa (connexin 31)
  • gap junction protein, beta 4
    • CX30.3
  • GNAS complex locus
    • 1
    • adenylate cyclase stimulatory protein, alpha subunit
    • GS, alpha subunit
    • guanine nucleotide-binding protein, alpha-stimulating activity polypeptide
    • neuroendocrine secretory protein 55, included
    • secretogranin VI
    • stimulatory g protein
    • XI-alpha-s, included
  • HPS1, biogenesis of lysosomal organelles complex 3, subunit 1
    • Hermansky-Pudlak syndrome
    • Hermansky-Pudlak syndrome 1
    • HPS1 gene
    • pale ear, mouse, homolog of
  • HRas proto-oncogene, GTPase
    • v-Ha-ras harvey rat sarcoma viral oncogene homolog
  • keratin 14
    • cytokeratin 14
    • keratin 14
    • keratin 14(epidermolysis bullosa simplex, dowling-meara, koebner)
  • keratin 5
    • epidermolysis bullosa simplex, dowling-meara/kobner/weber-cockayne types
    • keratin 5
  • KIT ligand
    • DFNA69
    • FPH2
    • Kitl
    • KL-1
    • SCF
    • SF
    • SLF
  • KIT proto-oncogene receptor tyrosine kinase
    • piebald trait
    • v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KRAS proto-oncogene, GTPase
    • kirsten murine sarcoma VIrus 2
    • kirsten ras1, included
    • oncogene kras1, included
    • oncogene kras2
    • v-Ki-ras1 pseudogene, included
    • v-Ki-ras2 kirsten rat sarcoma viral oncogene homolog
  • lysosomal trafficking regulator
    • Chediak-Higashi syndrome 1
  • mechanistic target of rapamycin kinase
    • mechanistic target of rapamycin
    • mechanistic target of rapamycin (serine/threonine kinase)
  • melanocortin 1 receptor
    • MSH-R
  • melanogenesis-associated transcription factor
    • bHLHe32
    • MI
    • microphthalmia-associated transcription factor
    • Waardenburg syndrome, type 2A
  • mitogen-activated protein kinase kinase 1
    • MAPK/ERK kinase 1
    • protein kinase, mitogen-activated, kinase 1
  • mitogen-activated protein kinase kinase 2
    • MAPK/ERK kinase 2
    • protein kinase, mitogen-activated, kinase 2
  • mutL homolog 1
    • colorectal cancer, hereditary nonpolyposis, type 2
    • mutL homolog 1, colon cancer, nonpolyposis type 2 (e. coli)
    • mutL homolog 1, colon cancer, nonpolyposis type 2 (e. coli)
    • mutL, e. coli, homolog of, 1, included
    • mutlL(e. coli) homolog 1 (colon cancer, nonpolyposis type 2)
  • mutS homolog 2
    • coca1
    • colon cancer, familial nonpolyposis, type 1
    • colorectal cancer, hereditary nonpolyposis, type 1
    • mutS (e. coli) homolog 2 (colon cancer, nonpolyposis type 1)
    • mutS homolog 2, colon cancer, nonpolyposis type 1 (e. coli)
    • mutS, e. coli, homolog of, 2, included
  • mutS homolog 6
    • colorectal cancer, hereditary nonpolyposis, type 5, included
    • G/T mismatch-binding protein
    • mutS homolog 6 (e. coli)
    • mutS, e. coli, homolog of, 6
  • myosin VA
    • GS1
    • MYO5
    • MYR12
  • neurofibromin 1
    • neurofibromatosis
    • neurofibromatosis, type i
    • neurofibromatosis, type i, with glioma, included
    • neurofibromatosis, type i, with leukemia, included
    • neurofibromin, included
    • von recklinghausen disease
  • neurofibromin 2
    • merlin
    • moesin-ezrin-radixin like
    • neurofibromin 2
    • neurofibromin 2 (bilateral acoustic neuroma)
    • neurofibromin 2 (merlin)
    • schwannomin
  • NOP10 ribonucleoprotein
    • NOP10 ribonucleoprotein homolog (yeast)
    • NOP10, s. cerevisiae, homolog of
    • nucleolar protein family A, member 3
    • nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)
  • NRAS proto-oncogene, GTPase
    • neuroblastoma RAS viral (v-ras) oncogene homolog
    • neuroblastoma RAS viral oncogene homolog
    • oncogene NRAS
  • OCA2 melanosomal transmembrane protein
    • BEY
    • BEY1
    • BEY2
    • EYCL
  • oncostatin M receptor
    • OSMRB
  • paired box 3
    • paired domain gene hup2
  • partner and localizer of BRCA2
    • fanconi anaemia, complementation group N
    • fanconi anemia, complementation group N
  • phosphatase and tensin homolog
    • mutated in multiple advanced cancers 1
    • phosphatase and tensin homolog
    • phosphatase and tensin homolog deleted on chromosome 10
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • PMS1 homolog 2, mismatch repair system component
    • PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • polypeptide N-acetylgalactosaminyltransferase 3
    • GALNAC transferase 3
    • UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNAC-T3)
  • porcupine O-acyltransferase
    • MG61
    • por
    • PORC
    • porcupine homolog (Drosophila)
    • PPN
  • protein kinase cAMP-dependent type I regulatory subunit alpha
    • protein kinase cAMP-dependent, regulatory, type I, alpha
    • protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
    • tissue-specific extinguisher 1
  • protein O-fucosyltransferase 1
    • FUT12
    • KIAA0180
    • O-FUT, O-Fuc-T
  • protein O-glucosyltransferase 1
    • 9630046K23Rik
    • hCLP46
    • KDELCL1
    • MDS010
    • MDSRP
    • MGC32995
    • Rumi
  • protein tyrosine phosphatase, non-receptor type 11
    • noonan syndrome 1
    • protein-tyrosine phosphatase 2c
    • protein-tyrosine phosphatase, nonreceptor-type, 11
    • tyrosine phosphatase shp2
  • RAB27A, member RAS oncogene family
  • Raf-1 proto-oncogene, serine/threonine kinase
    • oncogene mil
    • oncogene raf1
    • transforming replication-defective murine retrovirus 3611-msv
    • v-raf-1 murine leukemia viral oncogene homolog 1
  • ras-like without CAAX 1
    • MGC125864
    • MGC125865
    • RIBB
    • ROC1
  • RecQ-like helicase 4
    • DNA helicase, RECQ-like, type 4
    • RecQ protein-like 4
  • SAM and SH3 domain containing 1
    • dJ323M4.1
    • KIAA0790
    • SH3D6A
  • serine/threonine kinase 11
    • serine/threonine kinase 11 (peutz-jeghers syndrome)
    • serine/threonine protein kinase 11
  • SHOC2, leucine-rich repeat scaffold protein
    • RAS-binding protein SUR8, c. elegans, homolog of
    • soc-2 (suppressor of clear, C.elegans) homolog
    • soc-2 suppressor of clear homolog (C. elegans)
  • SLX4 structure-specific endonuclease subunit
    • BTB (POZ) domain containing 12
    • BTB/POZ domain-containing protein 12
    • MUS312, drosophila, homolog of
    • SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
    • structure-specific endonuclease subunit SLX4
  • snail family transcriptional repressor 2
    • slug homolog, zinc finger protein (chicken)
    • snail family zinc finger 2
    • snail homolog 2 (Drosophila)
  • solute carrier family 24 member 5
    • JSX
    • OCA6
  • solute carrier family 29 member 3
    • ENT3
    • FLJ11160
  • solute carrier family 45 member 2
    • AIM-1
    • OCA4
  • SOS Ras/Rac guanine nucleotide exchange factor 1
    • son of sevenless homolog 1 (drosophila)
  • sprouty-related, EVH1 domain containing 1
  • SRY-box 10
    • SRY (sex determining region Y)-box 10
  • SRY-box 18
    • 0
  • sterile alpha motif domain containing 9
  • telomerase reverse transcriptase
    • telomerase catalytic subunit
  • telomerase RNA component
    • telomerase RNA candidate 3
  • TERF1 interacting nuclear factor 2
    • TERF1 (TRF1)-interacting nuclear factor 2
    • TRF1-interacting nuclear factor 2
  • TSC complex subunit 1
    • hamartin
    • tsc1 gene
    • tuberous sclerosis 1
  • TSC complex subunit 2
    • TSC2 gene
    • TSC4 gene, formerly
    • tuberin
    • tuberous sclerosis 2
  • tyrosinase
    • OCA1
    • OCA1A
    • OCAIA
  • tyrosinase related protein 1
    • b-PROTEIN
    • CATB
    • GP75
    • OCA3
    • TRP
  • U6 snRNA biogenesis phosphodiesterase 1
    • FLJ13154
    • HVSL1
    • Mpn1
  • WD repeat containing, antisense to TP53
    • WD repeat domain 79
2017
Renal Cancer, Familial, 10 Gene Panel
  • Birt-Hogg-Dube Syndrome
    • Fibrofolliculomas With Trichodiscomas And Acrochordons
    • Hornstein-Knickenberg Syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
    • Clove Syndrome
    • Cloves Syndrome
    • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities
  • Hepatocellular Carcinoma
    • Cancer, Hepatocellular
    • Hepatoma
    • Liver Cancer
    • Liver Cell Carcinoma
  • Hereditary Leiomyomatosis And Renal Cell Cancer
    • Leiomyoma, Hereditary Multiple, Of Skin
    • Leiomyoma, Multiple Cutaneous
    • Leiomyomatosis And Renal Cell Cancer, Hereditary
    • Multiple Cutaneous And Uterine Leiomyomata 1, With Or Without Renal Cell Carcinoma
  • Paraganglioma and Gastric Stromal Sarcoma
    • Carney-Stratakis Syndrome
    • Paraganglioma and Gastrointestinal Stromal Tumor
    • Paraganglioma and Gastrointestinal Stromal Tumour
  • Paragangliomas 4
    • Carotid Body Tumors And Multiple Extraadrenal Phaeochromocytomas
    • Carotid Body Tumors And Multiple Extraadrenal Pheochromocytomas
    • Paraganglioma, Familial Malignant
    • Paragangliomas, Hereditary Extraadrenal
    • Phaeochromocytoma, Extraadrenal, And Cervical Paraganglioma
    • Phaeochromocytoma, Familial Extraadrenal
    • Pheochromocytoma, Extraadrenal, And Cervical Paraganglioma
    • Pheochromocytoma, Familial Extraadrenal
  • Phaeochromocytoma
    • pheochromocytoma
  • Renal Cell Carcinoma, Nonpapillary
    • Adenocarcinoma Of Kidney
    • Hypernephroma
  • Renal Cell Carcinoma, Papillary, 1
    • Adenocarcinoma, Renal
    • Renal Cell Carcinoma, Papillary
  • Tumor Predisposition Syndrome
  • Von Hippel-Lindau Syndrome
    • Von Hippel Lindau
  • AKT serine/threonine kinase 1
    • v-akt murine thymoma viral oncogene homolog 1
  • BRCA1 associated protein 1
    • BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
  • folliculin
    • BHD gene
  • fumarate hydratase
    • fumarase
    • fumarate hydratase, cytosolic, included
    • fumarate hydratase, mitochondrial
  • MET proto-oncogene, receptor tyrosine kinase
    • hepatocyte growth factor receptor
    • met protooncogene
    • oncogene met
    • renal cell carcinoma, papillary, 2 gene
  • phosphatase and tensin homolog
    • mutated in multiple advanced cancers 1
    • phosphatase and tensin homolog
    • phosphatase and tensin homolog deleted on chromosome 10
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • serine/threonine kinase 11
    • serine/threonine kinase 11 (peutz-jeghers syndrome)
    • serine/threonine protein kinase 11
  • succinate dehydrogenase complex iron sulfur subunit B
    • paraganglioma, familial malignant, included
    • paragangliomas, familial nonchromaffin, 4, included
    • SDH2, homolog of
    • succinate dehydrogenase 1, iron sulfur subunit
    • succinate dehydrogenase 2, s. cerevisiae, homolog of
    • succinate dehydrogenase complex, subunit B, iron sulfur (IP)
    • succinate dehydrogenase complex, subunit B, iron sulfur protein
  • von Hippel-Lindau tumor suppressor
    • VHL gene
    • von hippel-lindau syndrome
    • von hippel-lindau tumor suppressor
    • Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
2016
Renal Cancer, Familial, 11 Gene Panel
  • Bannayan-Riley-Ruvalcaba Syndrome
    • Bannayan-Zonana Syndrome
    • Macrocephaly, Multiple Lipomas, And Hemangiomata
    • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
    • Riley-Smith Syndrome, Included
    • Ruvalcaba-Myhre-Smith Syndrome
  • Birt-Hogg-Dube Syndrome
    • Fibrofolliculomas With Trichodiscomas And Acrochordons
    • Hornstein-Knickenberg Syndrome
  • Cowden Syndrome 1
    • Cerebellar Granule Cell Hypertrophy And Megalencephaly, Included
    • Cerebelloparenchymal Disorder VI, Included
    • Cowden Disease
    • Cowden Syndrome
    • Cowden-Like Syndrome, Included
    • Dysplastic Gangliocytoma Of The Cerebellum, Included
    • Lhermitte-Duclos Disease, Included
    • Multiple Hamartoma Syndrome
  • Hepatocellular Carcinoma
    • Cancer, Hepatocellular
    • Hepatoma
    • Liver Cancer
    • Liver Cell Carcinoma
  • Hereditary Leiomyomatosis And Renal Cell Cancer
    • Leiomyoma, Hereditary Multiple, Of Skin
    • Leiomyoma, Multiple Cutaneous
    • Leiomyomatosis And Renal Cell Cancer, Hereditary
    • Multiple Cutaneous And Uterine Leiomyomata 1, With Or Without Renal Cell Carcinoma
  • Paraganglioma and Gastric Stromal Sarcoma
    • Carney-Stratakis Syndrome
    • Paraganglioma and Gastrointestinal Stromal Tumor
    • Paraganglioma and Gastrointestinal Stromal Tumour
  • Paragangliomas 4
    • Carotid Body Tumors And Multiple Extraadrenal Phaeochromocytomas
    • Carotid Body Tumors And Multiple Extraadrenal Pheochromocytomas
    • Paraganglioma, Familial Malignant
    • Paragangliomas, Hereditary Extraadrenal
    • Phaeochromocytoma, Extraadrenal, And Cervical Paraganglioma
    • Phaeochromocytoma, Familial Extraadrenal
    • Pheochromocytoma, Extraadrenal, And Cervical Paraganglioma
    • Pheochromocytoma, Familial Extraadrenal
  • Phaeochromocytoma
    • pheochromocytoma
  • Renal Cancer, Familial, 11 Gene Panel
  • Renal Cell Carcinoma, Papillary, 1
    • Adenocarcinoma, Renal
    • Renal Cell Carcinoma, Papillary
  • Tuberous Sclerosis 1
    • Tuberose Sclerosis
    • Tuberous Sclerosis Complex
  • Tuberous Sclerosis 2
    • Tsc2 Angiomyolipomas, Renal, Modifier Of, Included
  • Tumor Predisposition Syndrome
  • Von Hippel-Lindau Syndrome
    • Von Hippel Lindau
  • Wilms Tumor 1
    • Nephroblastoma
  • BRCA1 associated protein 1
    • BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
  • folliculin
    • BHD gene
  • fumarate hydratase
    • fumarase
    • fumarate hydratase, cytosolic, included
    • fumarate hydratase, mitochondrial
  • melanogenesis-associated transcription factor
    • bHLHe32
    • MI
    • microphthalmia-associated transcription factor
    • Waardenburg syndrome, type 2A
  • MET proto-oncogene, receptor tyrosine kinase
    • hepatocyte growth factor receptor
    • met protooncogene
    • oncogene met
    • renal cell carcinoma, papillary, 2 gene
  • phosphatase and tensin homolog
    • mutated in multiple advanced cancers 1
    • phosphatase and tensin homolog
    • phosphatase and tensin homolog deleted on chromosome 10
  • succinate dehydrogenase complex iron sulfur subunit B
    • paraganglioma, familial malignant, included
    • paragangliomas, familial nonchromaffin, 4, included
    • SDH2, homolog of
    • succinate dehydrogenase 1, iron sulfur subunit
    • succinate dehydrogenase 2, s. cerevisiae, homolog of
    • succinate dehydrogenase complex, subunit B, iron sulfur (IP)
    • succinate dehydrogenase complex, subunit B, iron sulfur protein
  • TSC complex subunit 1
    • hamartin
    • tsc1 gene
    • tuberous sclerosis 1
  • TSC complex subunit 2
    • TSC2 gene
    • TSC4 gene, formerly
    • tuberin
    • tuberous sclerosis 2
  • von Hippel-Lindau tumor suppressor
    • VHL gene
    • von hippel-lindau syndrome
    • von hippel-lindau tumor suppressor
    • Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • Wilms tumor 1
    • wilms tumor 1 gene
2016
Renal Disorders 220 Gene Exome panel
  • 46,XX Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
    • Serkal Syndrome
  • Acrocallosal Syndrome
    • Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
    • Schinzel Acrocallosal Syndrome
  • Adenine Phosphoribosyltransferase Deficiency
  • Alagille Syndrome 2
  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Alstrom Syndrome
    • Alss
  • Alzheimer Disease
    • Alzheimer Disease, Familial
    • Alzheimer Disease, Familial, 1, Included
    • Presenile And Senile Dementia
  • Amyloidosis, Familial Visceral
  • Angioedema, Hereditary, Type III
    • Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function
    • Estrogen-Related HAE
    • Estrogen-Sensitive HAE
    • HAE With Normal C1 Inhibitor Concentration And Function
    • Hereditary Angioedema With Normal C1 Inhibitor Activity
  • Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
  • Apparent Mineralocorticoid Excess
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
    • Arc Syndrome
    • Arthrogryposis, Renal Dysfunction, And Cholestasis
  • Bardet-Biedl Syndrome 1
  • Bardet-Biedl Syndrome 10
  • Bardet-Biedl Syndrome 11
  • Bardet-Biedl Syndrome 12
  • Bardet-Biedl Syndrome 13
  • Bardet-Biedl Syndrome 14
  • Bardet-Biedl Syndrome 15
  • Bardet-Biedl Syndrome 2
  • Bardet-Biedl Syndrome 3
  • Bardet-Biedl Syndrome 4
  • Bardet-Biedl Syndrome 5
  • Bardet-Biedl Syndrome 6
  • Bardet-Biedl Syndrome 7
  • Bardet-Biedl Syndrome 8
  • Bardet-Biedl Syndrome 9
  • Bartter Syndrome, Antenatal, Type 1
  • Bartter Syndrome, Antenatal, Type 2
  • Bartter Syndrome, Type 3
    • Bartter Syndrome, Classic
    • Bartter Syndrome, Type 3, With Hypocalciuria, Included
  • Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness
    • Bartter Syndrome, Type 4b
  • Basal Laminar Drusen
  • Bifid Nose With Or Without Anorectal And Renal Anomalies
  • Bjornstad Syndrome
  • Blood Group--Diego System
  • Blood Group--Waldner Type
  • Branchiootic Syndrome 1
    • BO Syndrome 1
    • Branchiootic Dysplasia
  • Branchiootic Syndrome 3
    • Bo Syndrome 3
  • Branchiootorenal Syndrome 1
    • Bor Syndrome
    • Branchiootorenal Dysplasia
    • Melnick-Fraser Syndrome
  • Branchiootorenal Syndrome 2
  • Bronchiectasis With Or Without Elevated Sweat Chloride 1
  • Bronchiectasis With Or Without Elevated Sweat Chloride 2
  • Bronchiectasis With Or Without Elevated Sweat Chloride 3
  • Cataract 47
    • Cataract, Juvenile, With Microcornea And Glucosuria
  • Celiac Disease, Susceptibility To, 1
  • Central Hypoventilation Syndrome, Congenital
    • Autonomic Control, Congenital Failure Of
    • Cchs With Hirschsprung Disease, Included
    • Congenital Central Hypoventilation Syndrome
    • Haddad Syndrome, Included
    • Ondine Curse, Congenital
    • Ondine-Hirschsprung Disease, Included
  • CFHR5 Deficiency
    • CFHR5 Nephropathy
  • Charcot-Marie-Tooth Disease, Dominant Intermediate E
  • Chondrodysplasia, Blomstrand Type
  • COACH Syndrome
    • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
    • Joubert Syndrome With Congenital Hepatic Fibrosis
  • Coenzyme Q10 Deficiency, Primary, 1
    • Coenzyme Q Deficiency 1
    • CoQ Deficiency 1
    • CoQ10 Deficiency, Primary, 1
    • Ubiquinone Deficiency 1
  • Coenzyme Q10 Deficiency, Primary, 3
  • Coenzyme Q10 Deficiency, Primary, 6
  • Complement Component 3 Deficiency, Autosomal Recessive
  • Complement Factor B Deficiency
  • Complement Factor H Deficiency
  • Complement Factor I Deficiency
  • Congenital Disorder Of Glycosylation, Type Ia
    • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly
    • Jaeken Syndrome
    • Phosphomannomutase 2 Deficiency
  • Congenital Disorder Of Glycosylation, Type Ih
  • Cortisone Reductase Deficiency 2
  • Cowden Syndrome 2
  • Cranioectodermal Dysplasia 1
    • Levin Syndrome I
    • Sensenbrenner Syndrome
  • Cranioectodermal Dysplasia 2
  • Cranioectodermal Dysplasia 4
  • Cystinosis, Adult Nonnephropathic
    • Cystinosis, Benign Nonnephropathic
    • Cystinosis, Ocular Nonnephropathic
  • Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
    • Cystinosis, Intermediate
  • Cystinosis, Nephropathic
    • Cystinosin, Defect Of
    • Cystinosis, Infantile Nephropathic, Included
    • Lysosomal Cystine Transport Protein, Defect Of
  • Cystinuria
  • Deafness, Autosomal Dominant 17
    • Cochleosaccular Degeneration, Included
  • Deafness, Autosomal Dominant 23
  • Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
    • Dilated Vestibular Aqueduct
    • Neurosensory Nonsyndromic Recessive Deafness 4
  • Deafness, X-Linked 6
  • Dent Disease 1
    • Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
    • Nephrolithiasis 2
    • Nephrolithiasis, X-Linked Recessive, Type 2
  • Dent Disease 2
  • Dermatitis, Atopic, 2
  • Diabetes Insipidus, Nephrogenic, Autosomal
  • Diabetes Insipidus, Nephrogenic, X-Linked
    • Diabetes Insipidus, Nephrogenic, Type I
  • Diabetes Mellitus, Noninsulin-Dependent
    • Diabetes Mellitus, Type II
    • Maturity-Onset Diabetes
    • Noninsulin-Dependent Diabetes Mellitus
  • Diarrhea 1, Secretory Chloride, Congenital
  • Donnai-Barrow Syndrome
    • Dbs/Foar Syndrome
    • Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
    • Faciooculoacousticorenal Syndrome
  • Duane-Radial Ray Syndrome
    • Acrorenoocular Syndrome
    • Dr Syndrome
    • Duane Anomaly With Radial Ray Abnormalities And Deafness
    • Okihiro Syndrome
  • Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency
  • Ehlers-Danlos Syndrome, Hypermobility Type
    • Benign Hypermobility Syndrome
    • Ehlers-Danlos Syndrome, Type III
  • Eiken Syndrome
    • Bone Modeling Defect Of Hands And Feet
    • Eiken Skeletal Dysplasia
  • Ellis-Van Creveld Syndrome
    • Chondroectodermal Dysplasia
    • Mesoectodermal Dysplasia
  • Epidermolysis Bullosa Simplex With Muscular Dystrophy
    • Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy
    • MD-EBS
  • Epidermolysis Bullosa Simplex With Pyloric Atresia
    • EBS With Pyloric Atresia
  • Epidermolysis Bullosa Simplex, Ogna Type
  • Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
  • Epstein Syndrome
    • Macrothrombocytopenia, Nephritis, And Deafness
  • Erythrocytosis, Familial, 2
    • Erythrocytosis, Autosomal Recessive Benign
    • Polycythemia, Chuvash Type
    • Polycythemia, Vhl-Dependent
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • Factor XII Deficiency
  • Failure Of Tooth Eruption, Primary
    • Dental Noneruption
    • Posterior Openbite Malocclusion, Familial
    • Primary Failure Of Eruption, Nonsyndromic
    • Primary Retention Of Teeth
    • Unerupted Second Primary Molar
  • Fanconi Renotubular Syndrome 2
  • Fanconi-Bickel Syndrome
    • Fanconi Syndrome With Intestinal Malabsorption And Galactose Intolerance
    • Glycogen Storage Disease XI
    • Glycogenosis, Fanconi Type
    • Hepatic Glycogenosis With Amino Aciduria And Glucosuria
    • Hepatic Glycogenosis With Fanconi Nephropathy
    • Hepatorenal Glycogenosis With Renal Fanconi Syndrome
    • Pseudo-Phlorizin Diabetes
  • Fechtner Syndrome
    • Alport Syndrome With Macrothrombocytopenia
    • Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions
  • Fish-Eye Disease
  • Focal Cortical Dysplasia Of Taylor
    • Cortical Dysplasia Of Taylor
    • Focal Cortical Dysplasia, Type II
  • Focal Segmental Glomerulosclerosis
    • Glomerulosclerosis, Focal Segmental, 1
  • Focal Segmental Glomerulosclerosis 2
    • Glomerulosclerosis, Focal Segmental, 2
  • Focal Segmental Glomerulosclerosis 3, Susceptibility To
    • Glomerulosclerosis, Focal Segmental, 3, Susceptibility To
  • Focal Segmental Glomerulosclerosis 4, Susceptibility To
    • End-Stage Renal Disease, Nondiabetic, Susceptibility To, Included
  • Focal Segmental Glomerulosclerosis 5
    • Glomerulosclerosis, Focal Segmental, 5
  • Focal Segmental Glomerulosclerosis 6
    • Glomerulosclerosis, Focal Segmental, 6
  • Fraser Syndrome
    • Cryptophthalmos With Other Malformations
    • Cryptophthalmos-Syndactyly Syndrome, Included
  • Frasier Syndrome
  • Gastrointestinal Stromal Tumor
  • Gitelman Syndrome
    • Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
    • Potassium And Magnesium Depletion
  • Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
  • Glomerulopathy With Fibronectin Deposits 2
  • GM1-Gangliosidosis, Type I
    • Beta-Galactosidase-1 Deficiency
    • Gangliosidosis, Generalized GM1, Infantile Form
    • Gangliosidosis, Generalized GM1, Type 1
    • Gangliosidosis, Generalized GM1, Type I
    • GLB1 Deficiency
  • GM1-Gangliosidosis, Type II
    • Gangliosidosis, Generalized GM1, Juvenile Type
    • Gangliosidosis, Generalized GM1, Type 2
    • Gangliosidosis, Generalized GM1, Type II
  • GM1-Gangliosidosis, Type III
    • Gangliosidosis, Generalized GM1, Adult Type
    • Gangliosidosis, Generalized GM1, Chronic Type
    • Gangliosidosis, Generalized GM1, Type 3
    • Gangliosidosis, Generalized GM1, Type III
  • GRACILE Syndrome
    • Fellman Syndrome
    • Finnish Lethal Neonatal Metabolic Syndrome
    • Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
    • Lactic Acidosis, Finnish, With Hepatic Hemosiderosis
  • Hajdu-Cheney Syndrome
    • Acroosteolysis With Osteoporosis And Changes In Skull And Mandible
    • Arthrodentoosteodysplasia
    • Cheney Syndrome
    • Serpentine Fibula-Polycystic Kidney Syndrome
  • Hartnup Disorder
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
    • Ahus, Susceptibility To, 1
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
  • Hydrolethalus Syndrome 2
  • Hypercholesterolemia, Autosomal Dominant, Type B
    • Apolipoprotein B-100, Familial Defective
    • Apolipoprotein B-100, Familial Ligand-Defective
    • Hypercholesterolaemia, Autosomal Dominant, Type B
    • Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B
  • Hyperglycinuria
  • Hyperparathyroidism, Neonatal Severe
    • Hyperparathyroidism, Neonatal Severe Primary
    • NHPT
    • NSPH
  • Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
  • Hypertension, Essential
  • Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
  • Hyperuricemic Nephropathy, Familial Juvenile, 1
    • Familial Juvenile Hyperuricemic Nephropathy
    • Gouty Nephropathy, Familial Juvenile
    • Hyperuricemic Nephropathy, Familial Juvenile
    • Nephropathy, Familial, With Gout
  • Hyperuricemic Nephropathy, Familial Juvenile, 2
    • Early-Onset Hyperuricemia, Anemia, And Progressive Kidney Failure
  • Hypobetalipoproteinemia, Familial, 1
  • Hypocalcemia, Autosomal Dominant 1
  • Hypocalcemia, Autosomal Dominant 2
  • Hypocalciuric Hypercalcemia, Familial, Type I
    • Familial Benign Hypercalcemia 1
    • FHH1
    • Hypercalcemia, Familial Benign
    • Hypocalciuric Hypercalcemia, Acquired, Included
  • Hypocalciuric Hypercalcemia, Familial, Type II
    • Familial Benign Hypercalcemia II,
  • Hypocalciuric Hypercalcemia, Familial, Type III
    • Familial Benign Hypercalcemia, Type III
    • Hypercalcemia, Familial Benign, Oklahoma Type
    • Hypercalcemia, Familial Benign, Type III
  • Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
  • Hypomagnesemia 2, Renal
    • Magnesium Wasting, Renal
  • Hypomagnesemia 3, Renal
  • Hypomagnesemia 4, Renal
  • Hypomagnesemia 5, Renal, With Ocular Involvement
    • Fhhnc With Severe Ocular Involvement
    • Hypomagnesemia, Familial, With Hypercalciuria, Nephrocalcinosis, And Severe Ocular Involvement
    • Hypomagnesemia, Renal, With Ocular Involvement
    • Macular Coloboma, Bilateral, With Hypercalciuria
  • Hypomagnesemia 6, Renal
  • Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia
    • Barakat Syndrome
    • Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
    • Nephrosis, Nerve Deafness, And Hypoparathyroidism
  • Hypophosphatemic Rickets With Hypercalciuria, Hereditary
    • Hypercalciuric Rickets
  • Hypophosphatemic Rickets, Autosomal Dominant
    • Vitamin D-Resistant Rickets, Autosomal Dominant
  • Hypophosphatemic Rickets, Autosomal Recessive, 1
    • Hypophosphatemia, Autosomal Recessive
    • Hypophosphatemic Rickets, Autosomal Recessive
  • Hypophosphatemic Rickets, X-Linked Dominant
    • Hypophosphatemia, X-Linked
    • Hypophosphatemic VItamin D-Resistant Rickets
    • Vitamin D-Resistant Rickets, X-Linked
  • Hypophosphatemic Rickets, X-Linked Recessive
  • Hypouricemia, Renal, 1
  • Hypouricemia, Renal, 2
  • Ichthyosis Vulgaris
    • Ichthyosis Simplex
  • Iminoglycinuria
  • Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
  • Interstitial Nephritis, Karyomegalic
  • IVIC Syndrome
    • Oculootoradial Syndrome
    • Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, And Thrombocytopenia
  • Joubert Syndrome 1
    • Cerebellooculorenal Syndrome 1
    • Cerebelloparenchymal Disorder IV
    • Joubert Syndrome
    • Joubert-Boltshauser Syndrome
  • Joubert Syndrome 10
  • Joubert Syndrome 12
  • Joubert Syndrome 13
  • Joubert Syndrome 14
  • Joubert Syndrome 15
  • Joubert Syndrome 16
  • Joubert Syndrome 18
  • Joubert Syndrome 19
  • Joubert Syndrome 2
    • Cerebellooculorenal Syndrome 2
  • Joubert Syndrome 3
  • Joubert Syndrome 4
  • Joubert Syndrome 5
  • Joubert Syndrome 6
  • Joubert Syndrome 7
  • Joubert Syndrome 8
  • Joubert Syndrome 9
  • Kelley-Seegmiller Syndrome
  • Leber Congenital Amaurosis 10
  • Lecithin:Cholesterol Acyltransferase Deficiency
  • Leigh Syndrome
    • Leigh Syndrome Due To Cytochrome C Oxidase Deficiency, Included
    • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
  • Lesch-Nyhan Syndrome
    • Hprt Deficiency
    • Hprt Deficiency, Complete
    • Hprt Deficiency, Neurologic Variant, Included
    • Hprt1 Deficiency
    • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
    • Lesch-Nyhan Syndrome, Neurologic Variant, Included
  • Liddle Syndrome
    • Pseudoaldosteronism
  • Lowe Oculocerebrorenal Syndrome
    • Lowe Syndrome
    • OCRL1
    • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase, Deficiency Of
  • Lymphangioleiomyomatosis
    • Lymphangiomyomatosis
  • Lysinuric Protein Intolerance
    • Dibasic Amino Aciduria II
  • Macrothrombocytopenia And Progressive Sensorineural Deafness
  • Macular Degeneration, Age-Related, 1
  • Macular Degeneration, Age-Related, 13
  • Macular Degeneration, Age-Related, 14
  • Macular Degeneration, Age-Related, 15
  • Macular Degeneration, Age-Related, 4
  • Macular Degeneration, Age-Related, 9
  • Malaria, Susceptibility To
  • Manitoba Oculotrichoanal Syndrome
    • Marles Syndrome
  • May-Hegglin Anomaly
    • Bleeding Disorder, Platelet-Type, 6
    • Dohle Leukocyte Inclusions With Giant Platelets
    • Macrothrombocytopenia With Leukocyte Inclusions
  • McKusick-Kaufman Syndrome
    • Hydrometrocolpos Syndrome
    • Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation
    • Kaufman-Mckusick Syndrome
  • Meacham Syndrome
  • Meckel Syndrome, Type 1
    • Dysencephalia Splanchnocystica
    • Gruber Syndrome
    • Meckel Syndrome
    • Meckel-Gruber Syndrome
    • Meckel-Gruber Syndrome, Type 1
  • Meckel Syndrome, Type 10
  • Meckel Syndrome, Type 11
  • Meckel Syndrome, Type 2
  • Meckel Syndrome, Type 3
    • Meckel-Gruber Syndrome, Type 3
  • Meckel Syndrome, Type 4
    • Meckel-Gruber Syndrome, Type 4
  • Meckel Syndrome, Type 5
  • Meckel Syndrome, Type 6
  • Meckel Syndrome, Type 7
    • Goldston Syndrome
    • Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst
  • Meckel Syndrome, Type 8
  • Meckel Syndrome, Type 9
  • Medullary Cystic Kidney Disease 2
    • Medullary Cystic Kidney Disease 2, Autosomal Dominant
  • Megaloblastic Anemia 1
  • Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
  • Mesothelioma, Malignant
  • Metaphyseal Chondrodysplasia, Jansen Type
    • Metaphyseal Chondrodysplasia, Murk Jansen Type
  • Microphthalmia, Syndromic 6
    • Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
    • Microphthalmia And Pituitary Anomalies
    • Microphthalmia With Brain And Digit Developmental Anomalies
  • Microphthalmia, Syndromic 9
    • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
    • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia
    • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect
    • Spear Syndrome|Matthew-Wood Syndrome
  • Microvascular Complications Of Diabetes, Susceptibility To, 3
  • Mitochondrial Complex III Deficiency, Nuclear Type 1
  • Mitochondrial DNA Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
    • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive
  • Mucopolysaccharidosis Type IVB
    • Morquio Syndrome B
    • MPS IVB
  • Mullerian Aplasia and Hyperandrogenism
    • Mullerian Duct Failure And Hyperandrogenism
  • Multicentric Carpotarsal Osteolysis Syndrome
    • Multicentric Osteolysis, Autosomal Dominant
    • Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
  • Multiple Endocrine Neoplasia, Type IIA
    • Multiple Endocrine Neoplasia, Type II
    • Phaeochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
    • Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
    • PTC Syndrome
    • Sipple Syndrome
    • Thyroid Carcinoma, Familial Medullary, Included
  • Multiple Endocrine Neoplasia, Type IIB
    • Ganglioneuromatosis Of The Alimentary Tract, Included
    • Mucosal Neuroma Syndrome
    • Multiple Endocrine Neoplasia, Type III, Formerly
    • Neuromata, Mucosal, With Endocrine Tumors
    • Wagenmann-Froboese Syndrome
  • Multiple System Atrophy 1, Susceptibility To
  • Muscular Dystrophy, Limb-Girdle, Type 2H
    • Muscular Dystrophy, Hutterite Type
    • Sarcotubular Myopathy
  • Muscular Dystrophy, Limb-Girdle, Type 2Q
  • Nail-Patella Syndrome
    • Fong Disease
    • Nps1
    • Onychoosteodysplasia
    • Turner-Kieser Syndrome
  • Nephrogenic Syndrome Of Inappropriate Antidiuresis
  • Nephrolithiasis, X-Linked Recessive, With Renal Failure
    • Nephrolithiasis 1
    • Nephrolithiasis, X-Linked Recessive, Type 1
  • Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
  • Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
  • Nephronophthisis 1
    • Nephronophthisis, Familial Juvenile
    • Nph1
  • Nephronophthisis 11
  • Nephronophthisis 12
  • Nephronophthisis 13
  • Nephronophthisis 14
  • Nephronophthisis 15
  • Nephronophthisis 2
  • Nephronophthisis 3
  • Nephronophthisis 4
  • Nephronophthisis 7
  • Nephronophthisis 9
  • Nephronophthisis-Like Nephropathy 1
  • Nephrotic Syndrome, Type 1
    • Finnish Congenital Nephrosis
    • Nephrotic Syndrome, Congenital
  • Nephrotic Syndrome, Type 10
  • Nephrotic Syndrome, Type 2
    • Nephrotic Syndrome, Idiopathic
    • Nephrotic Syndrome, Idiopathic, Included
    • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
  • Nephrotic Syndrome, Type 3
    • Nephrotic Syndrome, Early-Onset, Type 3
  • Nephrotic Syndrome, Type 4
  • Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
  • Nephrotic Syndrome, Type 6
  • Nephrotic Syndrome, Type 7
  • Neuropathy, Hereditary Sensory and Autonomic, Type IIA
    • Acroosteolysis, Giaccai Type
    • Acroosteolysis, Neurogenic
    • Morvan Disease
    • Neuropathy, Congenital Sensory
    • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
    • Neuropathy, Hereditary Sensory, Type Iia
    • Neuropathy, Progressive Sensory, Of Children
  • Orofacial Cleft 11
    • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11
  • Orofaciodigital Syndrome I
    • Ofds I
    • Oral-Facial-Digital Syndrome, Type I
    • Papillon-Leage And Psaume Syndrome
  • Orofaciodigital Syndrome IV
    • Baraitser-Burn Syndrome
    • Mohr-Majewski Syndrome
    • OFD Syndrome With Tibial Defects
    • OFD Syndrome, Baraitser-Burn Type
    • Oral-Facial-Digital Syndrome, Type IV
  • Osteopetrosis, Autosomal Recessive 3
    • Carbonic Anhydrase II Deficiency
    • Guibaud-Vainsel Syndrome
    • Marble Brain Disease
    • Osteopetrosis With Renal Tubular Acidosis
  • Otofaciocervical Syndrome 1
  • Papillorenal Syndrome
    • Cakut With Or Without Ocular Abnormalities
    • Coloboma Of Optic Nerve With Renal Disease
    • Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
    • Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
    • Optic Nerve Coloboma With Renal Disease
    • Renal-Coloboma Syndrome
    • Renal-Coloboma Syndrome With Macular Abnormalities
  • Paraganglioma and Gastric Stromal Sarcoma
    • Carney-Stratakis Syndrome
    • Paraganglioma and Gastrointestinal Stromal Tumor
    • Paraganglioma and Gastrointestinal Stromal Tumour
  • Paragangliomas 4
    • Carotid Body Tumors And Multiple Extraadrenal Phaeochromocytomas
    • Carotid Body Tumors And Multiple Extraadrenal Pheochromocytomas
    • Paraganglioma, Familial Malignant
    • Paragangliomas, Hereditary Extraadrenal
    • Phaeochromocytoma, Extraadrenal, And Cervical Paraganglioma
    • Phaeochromocytoma, Familial Extraadrenal
    • Pheochromocytoma, Extraadrenal, And Cervical Paraganglioma
    • Pheochromocytoma, Familial Extraadrenal
  • Phaeochromocytoma
    • pheochromocytoma
  • Pierson Syndrome
  • Plasma Fibronectin Deficiency
  • Polycystic Kidney Disease 1
    • Polycystic Kidney Disease, Adult, Type I
  • Polycystic Kidney Disease 2
    • Polycystic Kidney Disease, Adult, Type II
  • Polycystic Kidney Disease 4 With or Without Hepatic Disease
    • Caroli Disease, Included
    • Hepatic Fibrosis, Congenital, Included
    • Pkd3, Formerly
    • Polycystic Kidney And Hepatic Disease 1
    • Polycystic Kidney Disease, Autosomal Recessive
    • Polycystic Kidney Disease, Infantile, Type I
    • Renal-Hepatic-Pancreatic Dysplasia, Included
  • Porencephaly 1
    • Hemiplegia, Infantile, With Porencephaly Porencephaly, Type 1
    • Porencephaly, Type 1
    • Porencephaly, Type 1, Autosomal Dominant
  • Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5
    • Progressive External Ophthalmoplegia, Autosomal Dominant, 5
  • Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
  • Pseudohypoaldosteronism, Type I, Autosomal Dominant
  • Pseudohypoaldosteronism, Type I, Autosomal Recessive
    • PHA I, AUTOSOMAL RECESSIVE
  • Pseudohypoaldosteronism, Type IIB
  • Pseudohypoaldosteronism, Type IIC
  • Pseudohypoparathyroidism, Type IB
  • Renal Cell Carcinoma, Nonpapillary
    • Adenocarcinoma Of Kidney
    • Hypernephroma
  • Renal Cysts And Diabetes Syndrome
    • Fjhn, Atypical
    • Glomerulocystic Kidney Disease, Hypoplastic Type
    • Glomerulocystic Kidney, Familial Hypoplastic
    • Hyperuricemic Nephropathy, Familial Juvenile, Atypical
    • Maturity-Onset Diabetes Of The Young, Type V
  • Renal Dysplasia, Cystic, Susceptibility To
  • Renal Glucosuria
  • Renal Hypodysplasia/Aplasia 1
    • Hereditary Renal Aplasia
    • Renal Adysplasia
    • Renal Agenesis
    • Renal Aplasia
  • Renal Tubular Acidosis, Distal, Autosomal Dominant
    • Renal Tubular Acidosis I
    • Rta, Classic Type
    • Rta, Distal Type, Autosomal Dominan
    • Rta, Gradient Type
  • Renal Tubular Acidosis, Distal, Autosomal Recessive
    • Renal Tubular Acidosis, Autosomal Recessive, With Preserved Hearing
    • RTA, Distal, Autosomal Recessive
  • Renal Tubular Acidosis, Distal, With Hemolytic Anemia
  • Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness
    • Renal Tubular Acidosis With Progressive Nerve Deafness
    • Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness
    • Rta With Progressive Nerve Deafness
  • Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
  • Renal Tubular Dysgenesis
  • Renal-Hepatic-Pancreatic Dysplasia 1
  • Renal-Hepatic-Pancreatic Dysplasia 2
  • Retinitis Pigmentosa 23
  • Retinitis Pigmentosa 50
    • Retinitis Pigmentosa, Concentric
  • Retinitis Pigmentosa 55
  • Schimke Immunoosseous Dysplasia
    • Immunoosseous Dysplasia, Schimke Type
  • Sclerosteosis 2
  • Sebastian Syndrome
    • Macrothrombocytopenia With Dispersed Leukocytic Inclusions
    • Sebastian Platelet Syndrome
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame Syndrome
  • Senior-Loken Syndrome 1
    • Juvenile Nephronophthisis With Leber Amaurosis
    • Loken-Senior Syndrome
    • Renal Dysplasia And Retinal Aplasia
    • Renal-Retinal Syndrome
    • Senior-Loken Syndrome
  • Senior-Loken Syndrome 4
  • Senior-Loken Syndrome 5
  • Senior-Loken Syndrome 6
  • Senior-Loken Syndrome 7
  • Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
    • Asphyxiating Thoracic Dystrophy 2
  • Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
    • Asphyxiating Thoracic Dystrophy 3
    • Polydactyly With Neonatal Chondrodystrophy, Type III
    • Saldino-Noonan Syndrome|Polydactyly With Neonatal Chondrodystrophy, Type I
    • Short Rib-Polydactyly Syndrome, Type I
    • Short Rib-Polydactyly Syndrome, Type IIb
    • Short Rib-Polydactyly Syndrome, Type Iii|Verma-Naumoff Syndrome
  • Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
    • Asphyxiating Thoracic Dystrophy 5
  • Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
    • Short Rib-Polydactyly Syndrome, Type V
  • Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
    • Conorenal Syndrome
    • Mainzer-Saldino Syndrome
    • Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia
  • Simpson-Golabi-Behmel Syndrome, Type 2
  • Spherocytosis, Type 4
  • Thrombophilia Due To Thrombomodulin Defect
  • Thrombotic Thrombocytopenic Purpura, Congenital
  • Thyroid Carcinoma, Familial Medullary
    • Mtc1
    • Mtcf
  • Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
    • Star Syndrome
    • Syndactyly With Renal And Anogenital Malformations
  • Townes-Brocks Syndrome
    • Anus, Imperforate, With Hand, Foot, And Ear Anomalies
    • Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies
    • REAR Syndrome
    • Renal-Ear-Anal-Radial Syndrome
  • Trigonocephaly 2
  • Tuberous Sclerosis 1
    • Tuberose Sclerosis
    • Tuberous Sclerosis Complex
  • Tuberous Sclerosis 2
    • Tsc2 Angiomyolipomas, Renal, Modifier Of, Included
  • Tumoral Calcinosis, Hyperphosphatemic, Familial
    • Calcinosis, Tumoral, With Hyperphosphatemia
    • Lipocalcinogranulomatosis
    • Morbus Teutschlaender
    • Teutschlaender Disease, Familial
    • Tumoral Calcinosis, Primary Hyperphosphatemic
  • Vesicoureteral Reflux 2
  • Vesicoureteral Reflux 3
  • Von Hippel-Lindau Syndrome
    • Von Hippel Lindau
  • Von Willebrand Disease, Type 1
  • Von Willebrand Disease, Type 2
    • Von Willebrand Disease, Type 2A, Included
    • Von Willebrand Disease, Type 2B, Included
    • Von Willebrand Disease, Type 2M, Included
    • Von Willebrand Disease, Type 2N, Included
  • Von Willebrand Disease, Type 3
    • Von Willebrand Disease, Type III
  • Weyers Acrofacial Dysostosis
  • Wilms Tumor 1
    • Nephroblastoma
  • Abelson helper integration site 1
    • Abelson helper integration site
    • Jouberin
  • actinin, alpha 4
    • actinin-4
    • focal segmental glomerulosclerosis 1
  • ADAM metallopeptidase with thrombospondin type 1 motif, 13
  • adaptor-related protein complex 2, sigma 1 subunit
    • clathrin adaptor complex AP2, sigma subunit
    • clathrin adaptor protein AP17
    • clathrin-associated/assembly/adaptor protein, small 2, 17-kDa
    • hypocalciuric hypercalcemia 3 (Oklahoma type)
  • adenine phosphoribosyltransferase
  • ADP ribosylation factor-like 13B
    • ARL2-like protein 1
  • ADP ribosylation factor-like 6
    • ADP ribosylation factor like GTPase 6
    • ARF-like 6
    • BBS3 gene
  • alanine-glyoxylate aminotransferase
    • serine-pyruvate aminotransferase
  • ALG8, alpha-1,3-glucosyltransferase
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
  • angiotensin I converting enzyme
  • angiotensin I converting enzyme 2
  • angiotensin II receptor type 1
  • angiotensinogen
  • apolipoprotein B
    • acanthocytosis with hypobetalipoproteinemia, included
    • AG lipoprotein types, included
    • apolipoprotein B (including AG (x) antigen)
    • apolipoprotein B allotypes, included
    • hypobetalipoproteinemia, familial, 1, included
    • hypobetalipoproteinemia, familial, included
    • hypobetalipoproteinemia, normotriglyceridemic,included
  • apolipoprotein L1
    • apolipoprotein L, 1
    • apolipoprotein L-I
  • aquaporin 2
  • arginine vasopressin receptor 2
    • antidiuretic hormone receptor
    • nephrogenic diabetes insipidus
    • vasopressin v2 receptor
  • argininosuccinate synthetase 1
    • argininosuccinate synthetase
  • ATPase H+ transporting V0 subunit A4
    • ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B
    • ATPase, H+ transporting, lysosomal V0 subunit A4
  • ATPase H+ transporting V1 subunit B1
    • ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
    • renal tubular acidosis with deafness
    • vacuolar proton pump 3
  • B9 domain containing 1
    • B9 protein domain 1
  • B9 protein domain 2
  • Bardet-Biedl syndrome 1
    • BBS1 gene
  • Bardet-Biedl syndrome 10
    • BBS10 gene
    • chromosome 12 open reading frame 58
  • Bardet-Biedl syndrome 12
    • chromosome 4 open reading frame 24
  • Bardet-Biedl syndrome 2
    • BBS2 gene
  • Bardet-Biedl syndrome 4
    • BBS4 gene
  • Bardet-Biedl syndrome 5
    • BBS5 gene
  • Bardet-Biedl syndrome 7
    • BBS7 gene
  • Bardet-Biedl syndrome 9
    • BBS9 gene
    • parathyroid hormone-responsive B1 gene
    • PTH-responsive B1 gene
  • barttin CLCNK type accessory beta subunit
  • BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • BicC family RNA binding protein 1
  • bone morphogenetic protein 4
  • calcium sensing receptor
    • calcium-sensing receptor
    • hypocalciuric hypercalcemia 1
    • parathyroid ca(2+)-sensing receptor 1
  • carbonic anhydrase 2
    • carbonic anhydrase b
    • carbonic anhydrase II
  • CD2-associated protein
    • CAS ligand with multiple SH3 domains
  • centrosomal protein 164
    • centrosomal protein 164kDa
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • centrosomal protein 41
    • centrosomal protein 41kDa
    • testis specific, 14
    • testis-specific protein A14 testis-specific protein 14
  • chloride voltage-gated channel 5
    • chloride channel 5
    • chloride channel, voltage-gated, k2
    • chloride channel, voltage-sensitive 5
    • clc5
    • nephrolithiasis 1 (x-linked)
    • nephrolithiasis 2, x-linked
  • chloride voltage-gated channel Kb
    • chloride channel KB
  • chromosome 5 open reading frame 52
  • claudin 16
  • claudin 19
  • coagulation factor XII
    • coagulation factor XII (Hageman factor)
    • Hageman factor
  • coenzyme Q2, polyprenyltransferase
    • coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
    • parahydroxybenzoate-polyprenyltransferase, mitochondrial
  • coenzyme Q6, monooxygenase
    • coenzyme Q10 monooxygenase 6
    • coenzyme Q6 homolog (yeast)
    • coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
    • coenzyme Q6 homolog, monooxygenase (yeast)
  • coiled-coil and C2 domain containing 2A
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
  • collagen, type IV, alpha 6 chain
    • collagen, type IV, alpha 6
  • complement C3
    • complement component 3
  • complement factor B
  • complement factor H
    • age-related maculopathy susceptibility 1
    • beta-1H
    • complement factor H
    • factor H
    • factor H and factor H-like 1, combined deficiency of, included
    • factor H-like 1, included
    • H factor 1
    • H factor 2 (complement)
  • complement factor H related 1
  • complement factor H related 2
  • complement factor H related 3
  • complement factor H related 4
  • complement factor H-related 5
    • factor H related protein 5
    • factor H-related gene 5
  • complement factor I
    • C3B-inactivator
    • konglutinogen-activating factor
  • cubilin
  • cyclin and CBS domain divalent metal cation transport mediator 2
  • cyclin Q
    • family with sequence similarity 58, member A
  • cystinosin, lysosomal cystine transporter
    • cystinosin
    • cystinosis, nephropathic
  • decaprenyl diphosphate synthase subunit 2
    • prenyl (decaprenyl) diphosphate synthase, subunit 2
  • dentin matrix acidic phosphoprotein 1
  • diacylglycerol kinase epsilon
  • dynein, cytoplasmic 2, heavy chain 1
  • epidermal growth factor
  • epithelial membrane protein 2
  • EvC ciliary complex subunit 1
    • Ellis van Creveld
  • EvC ciliary complex subunit 2
    • Ellis van Creveld 2
  • EYA transcriptional coactivator and phosphatase 4
    • eyes absent (Drosophila) homolog 4
    • eyes absent homolog 4 (Drosophila)
  • FANCD2 and FANCI associated nuclease 1
  • fibroblast growth factor 23
  • fibronectin 1
  • filaggrin
  • FRAS1 related extracellular matrix 1
  • FRAS1 related extracellular matrix protein 2
  • Fraser extracellular matrix complex subunit 1
  • FXYD domain containing ion transport regulator 2
  • G protein subunit alpha 11
    • FBH
    • FBH2
    • FHH2
    • guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • galactosidase, beta 1
    • elastin receptor 1 (67kD)
    • elastin receptor 1, 67kDa
  • GATA binding protein 3
    • enhancer-binding protein GATA3
    • GATA-binding protein 3
  • GLIS family zinc finger 2
  • GLIS family zinc finger 3
  • HNF1 homeobox B
    • hepatic nuclear factor-1-beta
    • hepatocyte nuclear factor 2
    • HNF-1-beta
    • transcription factor 2
    • transcription factor 2, hepatic; lF-b3; variant hepatic nuclear factor
    • transcription factor, liver-specific
  • hydroxysteroid 11-beta dehydrogenase 1
    • hydroxysteroid (11-beta) dehydrogenase 1
  • hydroxysteroid 11-beta dehydrogenase 2
    • hydroxysteroid (11-beta) dehydrogenase 2
  • hypoxanthine phosphoribosyltransferase 1
    • hypoxanthine guanine phosphoribosyltransferase 1
  • inositol polyphosphate-5-phosphatase E
    • inositol polyphosphate-5-phosphatase, 72 kDa
    • Joubert syndrome 1
  • integrin subunit alpha 3
  • intraflagellar transport 122
    • SPG
    • WDR10p
    • WDR140
  • intraflagellar transport 140
  • intraflagellar transport 172
  • intraflagellar transport 80
  • inversin
  • inverted formin, FH2 and WH2 domain containing
    • chromosome 14 open reading frame 151
    • chromosome 14 open reading frame 173
    • formin, inverted, 2
    • inverted formin 2
  • IQ motif containing B1
  • kinesin family member 7
  • laminin subunit beta 2
    • laminin s
    • laminin, beta 2 (laminin S)
    • laminin, beta-2
  • LDL receptor related protein 2
  • LDL receptor related protein 4
  • lecithin cholesterol acyltransferase
  • LIM homeobox transcription factor 1, beta
  • lin-28 homolog A
  • lysozyme
  • MAF bZIP transcription factor B
    • v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
  • major histocompatibility complex, class II, DQ alpha 1
  • McKusick-Kaufman syndrome
    • BBS6 gene
    • MKKS gene
  • Meckel syndrome, type 1
  • myosin IE
    • myosin IC
  • myosin, heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • nei like DNA glycosylase 1
  • nephrocystin 1
    • nephrocystin-1
    • nephronophthisis 1 (juvenile)
    • nephronophthisis, familial juvenile
  • nephrocystin 3
    • nephronophthisis 3 (adolescent)
  • nephrocystin 4
    • nephronophthisis 4
  • NIMA related kinase 1
  • NIMA related kinase 8
  • notch 2
    • notch homolog 2 (drosophila)
  • NPHS1, nephrin
    • nephrosis 1, congenital, Finnish type (nephrin)
    • renal glomerulus-specific cell adhesion receptor
  • NPHS2, podocin
    • nephrosis 2, idiopathic, steroid-resistant (podocin)
    • nephrosis 2, idiopathic, steroid-resistant podocin
  • nuclear receptor subfamily 3, group C, member 1
    • GR
  • OCRL, inositol polyphosphate-5-phosphatase
    • Lowe oculocerebrorenal syndrome
    • Lowe syndrome
    • ocrl gene
    • oculocerebrorenal syndrome of Lowe
    • phosphatidylinositol 4,5-bisphosphate 5-phosphatase, deficiency of
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • paired box 2
  • parathyroid hormone 1 receptor
    • parathyroid hormone receptor 1
    • parathyroid hormone/parathyroid hormone-related protein receptor
    • PTH receptor
    • PTH/PTHRP receptor
  • phosphate regulating endopeptidase homolog, X-linked
    • hypophosphatemia, VItamin D-resistant rickets
    • hypophosphatemia, X-linked
    • hypophosphatemic D-resistant rickets i
    • phosphate regulating endopeptidase homolog, X-linked, included
    • vitamin D-resistant rickets, X-linked
  • phospholipase A2, receptor 1
  • phospholipase C, epsilon 1
  • phosphomannomutase 2
  • PKHD1, fibrocystin/polyductin
    • fibrocystin
    • PKHD1 gene
    • polycystic kidney and hepatic disease 1 (autosomal recessive)
    • polycystic kidney and hepatic disease 1 gene
    • polyductin
    • tigmin
  • plectin
  • polycystin 1, transient receptor potential channel interacting
    • polycystic kidney disease 1
    • polycystic kidney disease 1 (autosomal dominant)
    • polycystin 1, included
  • polycystin 2, transient receptor potential cation channel
    • polycystic kidney disease 2
    • polycystic kidney disease 2 (autosomal dominant)
    • polycystic kidney disease, adult, type II
    • polycystin 2, included
  • potassium voltage-gated channel subfamily J member 1
  • potassium voltage-gated channel subfamily J member 10
    • potassium inwardly-rectifying channel, subfamily J, member 10
  • protein tyrosine phosphatase, receptor type O
    • glomerular epithelial protein 1
    • protein tyrosine phosphatase PTP-U2
  • renin
  • ret proto-oncogene
    • hirschsprung disease 1
    • rearranged during transfection protooncogene
    • ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, hirschsprung disease)
    • ret protooncogene
    • ret/elks fusion gene, included
  • Rho GTPase activating protein 24
    • filamin A-associated RHOGAP
    • RAC1- and CDC42-specific GTPase-activating protein, 72-kD
  • ribonucleotide reductase regulatory TP53 inducible subunit M2B
    • p53-inducible and ribonucleotide reductase small subunit 2-like
    • ribonucleotide reductase M2 B (TP53 inducible)
    • ribonucleotide reductase small subunit 2-like, p53-inducible
    • ribonucleotide reductase, M2 B
  • RNA binding motif protein 8A
    • RNA-binding motif protein 8
  • roundabout guidance receptor 2
    • roundabout, Drosophilia, homolog of 2
  • RPGRIP1-like
    • nephrocystin 8
  • scavenger receptor class B member 2
  • serologically defined colon cancer antigen 8
  • seryl-tRNA synthetase 2, mitochondrial
  • SIX homeobox 1
  • SIX homeobox 2
  • SIX homeobox 5
    • DM locus-associated homeodomain protein
  • sodium channel epithelial 1 alpha subunit
  • sodium channel epithelial 1 beta subunit
    • sodium channel, epithelial, beta subunit
    • sodium channel, non-voltage-gated 1, beta subunit
    • sodium channel, nonvoltage-gated 1, beta liddle syndrome
  • sodium channel epithelial 1 gamma subunit
    • sodium channel, non-voltage-gated 1, gamma subunit
    • sodium channel, nonvoltage-gated 1, gamma
  • solute carrier family 12 member 6
    • agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)
    • solute carrier family 12 (potassium/chloride transporter), member 6
  • solute carrier family 12 member 3
    • solute carrier family 12 (sodium/chloride transporters), member 3
  • solute carrier family 16 member 12
    • solute carrier family 16 (monocarboxylic acid transporters), member 12
    • solute carrier family 16, member 12 (monocarboxylic acid transporter 12)
  • solute carrier family 2 member 2
    • glucose transporter 2
    • glucose transporter, liver/islet
    • solute carrier family 2 (facilitated glucose transporter) member 2
  • solute carrier family 2 member 9
  • solute carrier family 22 member 12
  • solute carrier family 25 member 13
    • citrin
    • mitochondrial aspartate glutamate carrier 2
    • solute carrier family 25 (aspartate/glutamate carrier) member 13
    • solute carrier family 25, member 13 (citrin)
  • solute carrier family 26 member 3
  • solute carrier family 3 member 1
    • solute carrier family 3 (cystine, dibasic and neutral amino acid transporter) member 1
  • solute carrier family 34 member 1
  • solute carrier family 34 member 3
    • solute carrier family 34 (sodium phosphate) member 3
  • solute carrier family 4 member 1 (Diego blood group)
    • solute carrier family 4 (anion exchanger), member 1
    • solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, diego blood group)
  • solute carrier family 4 member 4
  • solute carrier family 5 member 2
  • solute carrier family 6 member 19
  • solute carrier family 6 member 20
  • solute carrier family 7 member 7
    • solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • solute carrier family 7 member 9
    • solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
  • solute carrier family 9 member A6
    • sodium/hydrogen exchanger 6
    • solute carrier family 9 (sodium/hydrogen exchanger), isoform 6
    • solute carrier family 9 (sodium/hydrogen exchanger), member 6
    • solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
  • spalt-like transcription factor 1
    • sal (Drosophila)-like 1
    • SAL-like 1
    • sal-like 1 (Drosophila)
  • spalt-like transcription factor 4
    • sal-like 4 (drosophila)
  • SRY-box 17
  • stimulated by retinoic acid 6
  • succinate dehydrogenase complex iron sulfur subunit B
    • paraganglioma, familial malignant, included
    • paragangliomas, familial nonchromaffin, 4, included
    • SDH2, homolog of
    • succinate dehydrogenase 1, iron sulfur subunit
    • succinate dehydrogenase 2, s. cerevisiae, homolog of
    • succinate dehydrogenase complex, subunit B, iron sulfur (IP)
    • succinate dehydrogenase complex, subunit B, iron sulfur protein
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like 1
  • syntaxin 16
  • tectonic family member 1
    • tectonic
    • tectonic 1
  • tectonic family member 2
    • chromosome 12 open reading frame 38
    • tectonic 2
  • tectonic family member 3
  • tenascin XB
  • tetratricopeptide repeat domain 21B
    • tetratricopeptide repeat domain-containing protein 21B
    • tetratricopeptide repeat-containing hedgehog modulator 1
  • tetratricopeptide repeat domain 8
    • BBS8 gene
  • thrombomodulin
  • TNFAIP3 interacting protein 1
  • transient receptor potential cation channel, subfamily C, member 6
    • transient receptor potential, drosophila, homolog of, 6
  • transmembrane protein 138
  • transmembrane protein 216
    • cerebello-oculo-renal syndrome 2
    • Meckel syndrome, type 2
  • transmembrane protein 231
  • transmembrane protein 237
    • ALS2 chromosome region gene 4
    • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
  • transmembrane protein 67
  • tripartite motif containing 32
    • BBS11 gene
    • limb girdle muscular dystrophy 2H (autosomal recessive)
    • TAT-interacting protein, 72-kDa
    • tripartite motif-containing 32
  • TSC complex subunit 1
    • hamartin
    • tsc1 gene
    • tuberous sclerosis 1
  • TSC complex subunit 2
    • TSC2 gene
    • TSC4 gene, formerly
    • tuberin
    • tuberous sclerosis 2
  • uromodulin
    • tamm-horsfall glycoprotein
    • uromodulin (uromucoid, tamm-horsfall glycoprotein)
  • uroplakin 3A
  • von Hippel-Lindau tumor suppressor
    • VHL gene
    • von hippel-lindau syndrome
    • von hippel-lindau tumor suppressor
    • Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • von Willebrand factor
    • 0
  • VPS33B, late endosome and lysosome associated
    • vacuolar protein sorting 33 homolog B (yeast)
  • WD repeat containing planar cell polarity effector
  • WD repeat domain 19
  • WD repeat domain 34
  • WD repeat domain 35
  • WD repeat domain 60
  • Wilms tumor 1
    • wilms tumor 1 gene
  • WNK lysine deficient protein kinase 1
    • hereditary sensory neuropathy, type II
    • protein kinase, lysine deficient 1
  • WNK lysine deficient protein kinase 4
  • Wnt family member 4
    • wingless-type MMTV integration site family, member 4
  • X-prolyl aminopeptidase 3
    • X-prolyl aminopeptidase 3, mitochondrial
  • zinc finger protein 423
2015
Renal Tubular Acidosis Disorders 4 Gene Panel
  • Renal Tubular Acidosis, Distal, Autosomal Dominant
    • Renal Tubular Acidosis I
    • Rta, Classic Type
    • Rta, Distal Type, Autosomal Dominan
    • Rta, Gradient Type
  • Renal Tubular Acidosis, Distal, Autosomal Recessive
    • Renal Tubular Acidosis, Autosomal Recessive, With Preserved Hearing
    • RTA, Distal, Autosomal Recessive
  • Renal Tubular Acidosis, Distal, With Hemolytic Anemia
  • Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness
    • Renal Tubular Acidosis With Progressive Nerve Deafness
    • Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness
    • Rta With Progressive Nerve Deafness
  • Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
  • Spherocytosis, Type 4
  • ATPase H+ transporting V0 subunit A4
    • ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B
    • ATPase, H+ transporting, lysosomal V0 subunit A4
  • ATPase H+ transporting V1 subunit B1
    • ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
    • renal tubular acidosis with deafness
    • vacuolar proton pump 3
  • solute carrier family 4 member 1 (Diego blood group)
    • solute carrier family 4 (anion exchanger), member 1
    • solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, diego blood group)
  • solute carrier family 4 member 4
2016
Renal Tubular Acidosis, Distal, Autosomal Recessive
  • Renal Tubular Acidosis, Distal, Autosomal Recessive
    • Renal Tubular Acidosis, Autosomal Recessive, With Preserved Hearing
    • RTA, Distal, Autosomal Recessive
  • ATPase H+ transporting V0 subunit A4
    • ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B
    • ATPase, H+ transporting, lysosomal V0 subunit A4
2010
Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness
  • Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness
    • Renal Tubular Acidosis With Progressive Nerve Deafness
    • Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness
    • Rta With Progressive Nerve Deafness
  • ATPase H+ transporting V1 subunit B1
    • ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
    • renal tubular acidosis with deafness
    • vacuolar proton pump 3
2010
Retinal Degeneration Disorders 105 Gene Panel
  • Achromatopsia 2
    • Colorblindness, Total
    • Rod Monochromacy 2
    • Rod Monochromatism 2
  • Achromatopsia 3
    • Achromatopsia With Myopia
    • Pingelapese Blindness
    • Rod Monochromacy 1
    • Rod Monochromatism 1
    • Total Colorblindness With Myopia
  • Achromatopsia 4
  • Bardet-Biedl Syndrome 1
  • Bardet-Biedl Syndrome 10
  • Bardet-Biedl Syndrome 11
  • Bardet-Biedl Syndrome 12
  • Bardet-Biedl Syndrome 13
  • Bardet-Biedl Syndrome 14
  • Bardet-Biedl Syndrome 2
  • Bardet-Biedl Syndrome 3
  • Bardet-Biedl Syndrome 4
  • Bardet-Biedl Syndrome 5
  • Bardet-Biedl Syndrome 6
  • Bardet-Biedl Syndrome 7
  • Bardet-Biedl Syndrome 8
  • Bardet-Biedl Syndrome 9
  • Bestrophinopathy, Autosomal Recessive
    • Bestrophinopathy
  • Bothnia Retinal Dystrophy
    • Vasterbotten Dystrophy
  • Choroidal Dystrophy, Central Areolar 2
    • Macular Dystrophy, Progressive
  • Choroideremia
    • Choroidal Sclerosis, Included
    • Tapetochoroidal Dystrophy, Progressive
  • Cone Dystrophy 3
    • Cone-Rod Dystrophy 14
    • Retinal Cone Dystrophy
  • Cone Dystrophy 4
    • Achromatopsia 5
  • Cone-Rod Dystrophy 10
  • Cone-Rod Dystrophy 11
  • Cone-Rod Dystrophy 12
  • Cone-Rod Dystrophy 13
  • Cone-Rod Dystrophy 15
    • Retinitis Pigmentosa 65
  • Cone-Rod Dystrophy 2
    • Cone-Rod Dystrophy
    • Cone-Rod Retinal Dystrophy
    • Retinal Cone-Rod Dystrophy
  • Cone-Rod Dystrophy 5
  • Cone-Rod Dystrophy 7
  • Cone-Rod Dystrophy 9
  • Deafness, Autosomal Dominant 11
  • Deafness, Autosomal Recessive 12
  • Deafness, Autosomal Recessive 18A
    • Deafness, Autosomal Recessive 18
  • Deafness, Autosomal Recessive 2
    • Neurosensory Nonsyndromic Recessive Deafness 2
  • Deafness, Autosomal Recessive 23
  • Deafness, Autosomal Recessive 31
    • Whirler, Mouse, Homolog Of
  • Doyne Honeycomb Retinal Dystrophy
    • Doyne Honeycomb Degeneration Of Retina
  • Exudative Vitreoretinopathy 1
    • Criswick-Schepens Syndrome
    • Exudative Vitreoretinopathy, Familial, Autosomal Dominant
    • Fevr, Autosomal Dominant
    • Retinopathy Of Prematurity, Included
  • Exudative Vitreoretinopathy 2, X-Linked
    • Exudative Vitreoretinopathy, Familial, 2
    • FEVR, X-Linked
  • Exudative Vitreoretinopathy 4
  • Fibrosis Of Extraocular Muscles, Congenital, 1
    • Blepharoptosis With Absent Eye Movements
    • Ophthalmoplegia, Congenital
  • Fundus Albipunctatus
    • Retinitis Punctata Albescens
  • Joubert Syndrome 5
  • Late-Onset Retinal Degeneration
    • Retinal Degeneration, Late-Onset, Autosomal Dominant
  • Leber Congenital Amaurosis 1
    • Amaurosis Congenita Of Leber I
    • Retinal Blindness, Congenital
  • Leber Congenital Amaurosis 10
  • Leber Congenital Amaurosis 11
  • Leber Congenital Amaurosis 12
  • Leber Congenital Amaurosis 13
    • Retinitis Pigmentosa 53
  • Leber Congenital Amaurosis 14
    • Retinal Dystrophy, Early-Onset Severe, LRAT-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, LRAT-Related
  • Leber Congenital Amaurosis 15
    • Retinitis Pigmentosa, Juvenile, TULP1-Related
  • Leber Congenital Amaurosis 2
    • Amaurosis Congenita Of Leber II
  • Leber Congenital Amaurosis 3
    • Retinitis Pigmentosa, Juvenile, SPATA7-Related
  • Leber Congenital Amaurosis 4
    • Cone-Rod Dystrophy, AIPL1-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, AIPL1-Related
  • Leber Congenital Amaurosis 5
  • Leber Congenital Amaurosis 6
  • Leber Congenital Amaurosis 7
  • Leber Congenital Amaurosis 8
  • Macular Degeneration, Age-Related, 2
    • Macular Degeneration, Senile
    • Maculopathy, Age-Related, 2
  • Macular Degeneration, Age-Related, 6
  • Macular Degeneration, X-Linked Atrophic
  • Macular Dystrophy, Patterned, 1
    • Butterfly Dystrophy Of Retinal Pigment Epithelium
    • Macular Dystrophy, Butterfly-Shaped Pigmentary
    • Patterned Dystrophy Of Retinal Pigment Epithelium
  • Macular Dystrophy, Retinal, 2
  • Macular Dystrophy, Vitelliform, 2
    • Best Disease
    • Best Macular Dystrophy
    • Macular Degeneration, Polymorphic VItelline
    • Macular Dystrophy, Vitelliform
    • Vitelliform Macular Dystrophy
    • Vitelliform Macular Dystrophy, Early-Onset
    • Vitelliform Macular Dystrophy, Juvenile-Onset
  • Macular Dystrophy, Vitelliform, 3
    • Foveomacular Dystrophy, Adult-Onset
    • Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization
    • Macular Dystrophy, Vitelliform, Adult-Onset
    • Vitelliform Macular Dystrophy, Adult-Onset
  • McKusick-Kaufman Syndrome
    • Hydrometrocolpos Syndrome
    • Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation
    • Kaufman-Mckusick Syndrome
  • Meckel Syndrome, Type 1
    • Dysencephalia Splanchnocystica
    • Gruber Syndrome
    • Meckel Syndrome
    • Meckel-Gruber Syndrome
    • Meckel-Gruber Syndrome, Type 1
  • Meckel Syndrome, Type 4
    • Meckel-Gruber Syndrome, Type 4
  • Microphthalmia, Syndromic 5
  • Newfoundland Rod-Cone Dystrophy
  • Night Blindness, Congenital Stationary, Autosomal Dominant 1
    • Night Blindness, Congenital Stationary, Rhodopsin-Related
  • Night Blindness, Congenital Stationary, Autosomal Dominant 2
    • Night Blindness, Congenital Stationary, Rambusch Type
  • Norrie Disease
    • Atrophia Bulborum Hereditaria
    • Episkopi Blindness
    • Exudative Retinopathy, X-Linked, Included
    • Nd
    • Norrie Disease Protein, Included
    • Norrin, Included
    • Pseudoglioma
  • Occult Macular Dystrophy
  • Oguchi Disease 1
    • Night Blindness, Congenital Stationary, Oguchi Type 1
  • Pigmented Paravenous Chorioretinal Atrophy
  • Pituitary Hormone Deficiency, Combined, 6
  • Prolonged Electroretinal Response Suppression
    • Bradyopsia
  • Retinal Cone Dystrophy 3B
    • Cone Dystrophy With Night Blindness And Supernormal Rod Responses, KCNV2-Related
    • Cone Dystrophy With Supernormal Rod Responses
  • Retinal Cone Dystrophy 4
  • Retinitis Pigmentosa
  • Retinitis Pigmentosa 1
  • Retinitis Pigmentosa 10
  • Retinitis Pigmentosa 11
  • Retinitis Pigmentosa 12
    • Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
    • RP With Or Without PPRPE
    • RP With Or Without Preserved Paraarteriole Retinal Pigment Epithelium
  • Retinitis Pigmentosa 13
  • Retinitis Pigmentosa 14
  • Retinitis Pigmentosa 17
  • Retinitis Pigmentosa 18
  • Retinitis Pigmentosa 19
  • Retinitis Pigmentosa 2
    • Retinitis Pigmentosa 2, X-Linked
  • Retinitis Pigmentosa 20
  • Retinitis Pigmentosa 25
  • Retinitis Pigmentosa 26
  • Retinitis Pigmentosa 27
    • Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
  • Retinitis Pigmentosa 28
  • Retinitis Pigmentosa 3
    • Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women
    • Cone-Rod Degeneration, X-Linked
    • Retinitis Pigmentosa 15
  • Retinitis Pigmentosa 30
  • Retinitis Pigmentosa 31
  • Retinitis Pigmentosa 33
  • Retinitis Pigmentosa 35
  • Retinitis Pigmentosa 36
  • Retinitis Pigmentosa 37
  • Retinitis Pigmentosa 38
  • Retinitis Pigmentosa 39
  • Retinitis Pigmentosa 4
    • Retinitis Pigmentosa, Rhodopsin-Related
  • Retinitis Pigmentosa 40
  • Retinitis Pigmentosa 41
  • Retinitis Pigmentosa 42
  • Retinitis Pigmentosa 43
  • Retinitis Pigmentosa 44
  • Retinitis Pigmentosa 45
  • Retinitis Pigmentosa 46
  • Retinitis Pigmentosa 47
  • Retinitis Pigmentosa 48
  • Retinitis Pigmentosa 49
  • Retinitis Pigmentosa 50
    • Retinitis Pigmentosa, Concentric
  • Retinitis Pigmentosa 51
  • Retinitis Pigmentosa 54
  • Retinitis Pigmentosa 55
  • Retinitis Pigmentosa 56
    • Maculopathy, IMPG2-Related
  • Retinitis Pigmentosa 57
  • Retinitis Pigmentosa 58
  • Retinitis Pigmentosa 59
  • Retinitis Pigmentosa 60
  • Retinitis Pigmentosa 61
  • Retinitis Pigmentosa 7
    • Retinitis Pigmentosa , Digenic
  • Retinitis Pigmentosa 9
  • Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
  • Retinoschisis 1, X-Linked, Juvenile
    • Retinoschisin, Included
    • Retinoschisis 1 Gene, Included
    • Rs
    • XLRS1
  • Senior-Loken Syndrome 6
  • Sorsby Fundus Dystrophy
    • Fundus Dystrophy, Pseudoinflammatory, of Sorsby
  • Stargardt Disease 1
    • Macular Degeneration, Juvenile
    • Macular Dystrophy With Flecks, Type 1
  • Stargardt Disease 3
    • Macular Dystrophy With Flecks, Type 3
    • Stargardt-Like Macular Dystrophy, Autosomal Dominant
  • Stargardt Disease 4
  • Sveinsson Chorioretinal Atrophy
    • Atrophia Areata
    • Helicoidal Peripapillary Chorioretinal Degeneration
    • Peripapillary Chorioretinal Degeneration, Icelandic Type
  • Usher Syndrome, Type I
    • Retinitis Pigmentosa And Congenital Deafness
    • Usher Syndrome, Type I, French Variety
    • Usher Syndrome, Type IA
    • Usher Syndrome, Type IB
  • Usher Syndrome, Type IC
    • Usher Syndrome, Type I, Acadian Variety
  • Usher Syndrome, Type ID
    • CDH23/PCDH15, Digenic
    • Usher Syndrome, Type ID/F
  • Usher Syndrome, Type IF
  • Usher Syndrome, Type IG
  • Usher Syndrome, Type IIA
  • Usher Syndrome, Type IIC
  • Usher Syndrome, Type IID
  • Usher Syndrome, Type IIIA
    • Usher Syndrome, Type III
  • Vitreoretinochoroidopathy
    • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
    • Vitreoretinochoroidopathy, Autosomal Dominant
    • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
  • ADAM metallopeptidase domain 9
    • a disintegrin and metalloproteinase domain 9 (meltrin gamma)
    • cone rod dystrophy 9
    • metalloproteinase-like, disintegrin-like, and cysteine-rich protein 9
    • myeloma cell metalloproteinase
  • adhesion G protein-coupled receptor V1
    • G protein-coupled receptor 98
    • monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
    • very large G protein-coupled receptor 1
  • ADP ribosylation factor-like 6
    • ADP ribosylation factor like GTPase 6
    • ARF-like 6
    • BBS3 gene
  • aryl hydrocarbon receptor interacting protein-like 1
    • aryl hydrocarbon receptor-interacting protein-like 1
  • ATP-binding cassette, sub-family A, member 4
    • ABC transporter, retina-specific
    • ATP-binding cassette transporter, retina-specific
    • ATP-binding cassette, sub-family A (ABC1), member 4
    • photoreceptor rim protein
    • stargardt disease
  • Bardet-Biedl syndrome 1
    • BBS1 gene
  • Bardet-Biedl syndrome 10
    • BBS10 gene
    • chromosome 12 open reading frame 58
  • Bardet-Biedl syndrome 12
    • chromosome 4 open reading frame 24
  • Bardet-Biedl syndrome 2
    • BBS2 gene
  • Bardet-Biedl syndrome 4
    • BBS4 gene
  • Bardet-Biedl syndrome 5
    • BBS5 gene
  • Bardet-Biedl syndrome 7
    • BBS7 gene
  • Bardet-Biedl syndrome 9
    • BBS9 gene
    • parathyroid hormone-responsive B1 gene
    • PTH-responsive B1 gene
  • bestrophin 1
    • best disease
    • vmd2 gene
  • C1q and TNF related 5
    • C1q and tumor necrosis factor related protein 5
  • cadherin-related 23
    • cadherin related 23
    • cadherin-like 23
    • cadherin-related family, member 23
    • otocadherin
  • cadherin-related family member 1
    • photoreceptor cadherin
    • protocadherin 21
  • calcium voltage-gated channel auxiliary subunit alpha2delta 4
    • calcium channel, voltage-dependent, alpha 2/delta subunit 4
  • carbonic anhydrase 4
    • carbonic anhydrase IV
    • retinitis pigmentosa 17 (autosomal dominant)
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • ceramide kinase-like
    • retinitis pigmentosa 26 (autosomal recessive)
  • CHM, Rab escort protein 1
    • CHM gene
    • choroideremia (Rab escort protein 1)
    • Rab escort protein 1
    • Rab geranylgeranyltransferase, component A
    • Rab GG transferase
  • chromosome 2 open reading frame 71
    • FLJ34931
    • RP54
  • clarin 1
    • USH3A gene
    • Usher syndrome 3A
  • cone-rod homeobox
    • cone-rod homeobox-containing gene
  • crumbs 1, cell polarity complex component
    • crumbs (Drosophila) homolog 1
    • crumbs homolog 1 (Drosophila)
  • cyclic nucleotide gated channel alpha 1
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 1
    • retinal rod cGMP-gated channel, alpha subunit
  • cyclic nucleotide gated channel alpha 3
    • cone photoreceptor cGMP-gated channel
    • cyclic nucleotide-gated channel, olfactory, 3
  • cyclic nucleotide gated channel beta 1
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 3-like
    • glutamic acid-rich protein 1
    • retinal rod cGMP-gated channel, beta subunit
    • retinal rod cGMP-gated channel, gamma subunit
  • cyclic nucleotide gated channel beta 3
    • achromatopsia (rod monochromacy) 1
    • achromatopsia (rod monochromacy) 3
  • dehydrodolichyl diphosphate synthase subunit
    • DEDOL-PP synthase
    • dehydrodolichyl diphosphate synthase
  • EGF containing fibulin-like extracellular matrix protein 1
    • EGF-containing fibulin-like extracellular matrix protein 1
    • fibrillin-like
    • fibulin 3
  • ELOVL fatty acid elongase 4
    • elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
    • elongation of very long chain fatty acids-like 4
  • eyes shut homolog (Drosophila)
    • EGF-like-domain, multiple 10
    • EGF-like-domain, multiple 11
    • retinitis pigmentosa 25 (autosomal recessive)
    • spacemaker
  • family with sequence similarity 161, member A
    • retinitis pigmentosa 28 (autosomal recessive)
  • fascin actin-bundling protein 2, retinal
    • fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
    • fascin, retinal
    • fascin, sea urchin, homolog of, 2
  • frizzled class receptor 4
    • frizzled homolog 4 (drosophila)
  • G protein subunit alpha transducin 2
    • G protein, alpha-transducing 2
    • guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
    • guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2
    • transducin, cone-specific, alpha polypeptide
  • guanylate cyclase 2D, retinal
    • guanylate cyclase 2D, membrane (retina-specific)
    • GUCY2E, mouse, homolog of
  • guanylate cyclase activator 1A
    • chromosome 6 open reading frame 131
    • guanylate cyclase activator 1A (retina)
    • guanylate cyclase-activating protein, photoreceptor 1
    • guanylin 1, retina
  • guanylate cyclase activator 1B
    • guanylate cyclase activator 1b (retina)
    • guanylate cyclase-activating protein, photoreceptor 2
    • guanylin 2, retina
  • inosine monophosphate dehydrogenase 1
    • IMP (inosine 5'-monophosphate) dehydrogenase 1
    • IMP (inosine monophosphate) dehydrogenase 1
    • IMP dehydrogenase 1
    • IMP dehydrogenase-like 1
    • inosine-5-prime-monophosphate dehydrogenase, type I
    • leber congenital amaurosis, type XI; lca11, included
  • interphotoreceptor matrix proteoglycan 2
    • spacrcan
  • isocitrate dehydrogenase 3 (NAD+) beta
    • isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit
  • kelch-like family member 7
    • kelch-like 7 (drosophila)
  • LCA5, lebercilin
    • chromosome 6 open reading frame 152
    • Leber congenital amaurosis 5
    • lebercilin
  • LDL receptor related protein 5
    • low density lipoprotein receptor-related protein 5
    • low density lipoprotein receptor-related protein 7
  • lecithin retinol acyltransferase
    • lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
  • McKusick-Kaufman syndrome
    • BBS6 gene
    • MKKS gene
  • Meckel syndrome, type 1
  • MER proto-oncogene tyrosine kinase
    • c-mer proto-oncogene tyrosine kinase
    • MER tyrosine kinase protooncogene
  • myosin VIIA
    • myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
    • myosin, unconventional, family VII, member A
  • NDP, norrin cystine knot growth factor
    • atrophia bulborum hereditaria
    • episkopi blindness
    • exudative retinopathy, x-linked, included
    • nd
    • norrie disease
    • norrie disease protein, included
    • norrin (pseudoglioma)
    • norrin, included
    • pseudoglioma
  • neural retina leucine zipper
    • neural retina-specific gene
    • retinal degeneration, autosomal recessive, clumped pigment type, included
    • retinitis pigmentosa 27,
  • nuclear receptor subfamily 2, group E, member 3
    • nuclear receptor subfamily 2, group e, member 3
    • photoreceptor-specific nuclear receptor
  • orthodenticle homeobox 2
    • orthodenticle homolog 2 (drosophila)
  • peripherin 2
    • peripherin 2 (retinal degeneration, slow)
    • peripherin 2, mouse, homolog of
    • peripherin, photoreceptor type
    • RDS, mouse, homolog of
    • retinal degeneration, slow, mouse, homolog of
    • retinal peripherin
  • phosphodiesterase 6A
    • phosphodiesterase 6A, cGMP-specific, rod, alpha
    • retinal rod photoreceptor cGMP phosphodiesterase, alpha subunit
  • phosphodiesterase 6B
    • phosphodiesterase 6B, cGMP-specific, rod, beta
    • retinal rod photoreceptor cGMP phosphodiesterase, beta subunit
  • phosphodiesterase 6C
    • phosphodiesterase 6C, cGMP-specific, cone, alpha prime
  • phosphodiesterase 6G
    • phosphodiesterase 6G, cGMP-specific, rod, gamma
    • retinal rod photoreceptor cGMP phosphodiesterase, gamma subunit
  • photoreceptor disc component
    • progressive rod-cone degeneration
  • PITPNM family member 3
    • phosphatidylinositol transfer protein, membrane-associated, 3
    • PYK2 N-terminal domain-interacting receptor 1
  • potassium voltage-gated channel modifier subfamily V member 2
    • potassium channel, subfamily V, member 2
  • pre-mRNA processing factor 3
    • PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)
    • PRP3 pre-mRNA processing factor 3 homolog (yeast)
    • retinitis pigmentosa 18 (autosomal dominant)
  • pre-mRNA processing factor 31
    • precursor mRNA-processing factor 31, s. cerevisiae, homolog of
    • PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
    • PRP31 pre-mRNA processing factor 31 homolog (yeast)
  • pre-mRNA processing factor 6
    • androgen receptor n-terminal domain-transactivating protein 1
    • chromosome 20 open reading frame 14
    • PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
    • PRP6 pre-mRNA processing factor 6 homolog (yeast)
  • pre-mRNA processing factor 8
    • precursor mRNA-processing factor 8, s. cerevisiae, homolog of
    • PRP8 pre-mRNA processing factor 8 homolog (s. cerevisiae)
    • u5 snRNP-specific protein, 220-kd
  • prominin 1
    • CD133 antigen
    • prominin, mouse, homolog-like 1
  • protocadherin-related 15
    • deafness, autosomal recessive 23
    • protocadherin 15
  • regulating synaptic membrane exocytosis 1
    • protein regulating synaptic membrane exocytosis 1
    • RAB3 interacting protein 2
  • regulator of G protein signaling 9
    • regulator of G-protein signalling 9
  • retina and anterior neural fold homeobox 2
    • Q50-type retinal homeobox
    • retina and anterior neural fold homeobox like 1
  • retinal degeneration 3
    • chromosome 1 open reading frame 36
    • retinal degeneration 3, mouse, homolog of
  • retinal G protein coupled receptor
    • RPE-retinal G protein-coupled receptor
  • retinal outer segment membrane protein 1
  • retinaldehyde binding protein 1
    • cellular retinaldehyde-binding protein
  • retinitis pigmentosa GTPase regulator
    • retinitis pigmentosa gtpase regulator
  • retinol binding protein 3
    • interstitial retinol-binding protein
    • retinol binding protein 3, interstitial
    • retinol-binding protein 3, interstitial
    • retinol-binding protein, interstitial
  • retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
    • retinol dehydrogenase 12 (all-trans and 9-cis)
  • retinol dehydrogenase 5
    • retinol dehydrogenase 5 (11-cis and 9-cis)
    • retinol dehydrogenase 5 (11-cis/9-cis)
    • retinol dehydrogenase, 11-cis
  • retinoschisin 1
    • retinoschisin
    • retinoschisis (x-linked, juvenile) 1
    • retinoschisis 1 gene, included
    • retinoschisis 1, x-linked, juvenile
  • rhodopsin
    • opsin 2
    • retinitis pigmentosa 4, included; rp4, included
    • retinitis pigmentosa, rhodopsin-related, included
  • RP1 like 1
    • retinitis pigmentosa 1-like 1
    • RP1-like protein 1
  • RP1, axonemal microtubule associated
    • oxygen-regulated photoreceptor protein 1
    • retinitis pigmentosa 1 (autosomal dominant)
    • RP1 gene
  • RP2, ARL3 GTPase activating protein
    • retinitis pigmentosa 2 (X-linked recessive)
    • RP2 gene
  • RP9, pre-mRNA splicing factor
    • PIM1-associated protein, mouse, homolog of
    • retinitis pigmentosa 9 (autosomal dominant)
    • RP9 gene
  • RPE65, retinoid isomerohydrolase
    • retinal pigment epithelium-specific protein 65kDa
  • RPGR interacting protein 1
    • retinitis pigmentosa GTPase regulator interacting protein 1
  • S-antigen visual arrestin
    • arrestin
    • rod arrestin
    • S-antigen
    • S-antigen; retina and pineal gland (arrestin)
    • S-arrestin
  • semaphorin 4A
    • sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
    • semaphorin B
  • small nuclear ribonucleoprotein U5, subunit 200
    • activating signal cointegrator 1 complex subunit 3-like 1
    • BRR2, yeast, homolog of
    • retinitis pigmentosa 33 (autosomal dominant)
    • small nuclear ribonucleoprotein 200kDa (U5)
    • small nuclear ribonucleoprotein, 200kDa
    • U5 snRNP-specific protein, 200kDa
  • spermatogenesis associated 7
    • leber congenital amaurosis 3
  • TEA domain transcription factor 1
    • atrophia areata, peripapillary chorioretinal degeneration
    • tea domain family member 1
    • TEA domain family member 1 (SV40 transcriptional enhancer factor)
    • transcription factor 13
    • transcriptional enhancer factor 1
  • tetratricopeptide repeat domain 8
    • BBS8 gene
  • TIMP metallopeptidase inhibitor 3
    • tissue inhibitor of metalloproteinase 3
    • tissue inhibitor of metalloproteinase 3 (sorsby fundus dystrophy, pseudoinflammatory)
  • TOP1 binding arginine/serine-rich protein
    • retinitis pigmentosa 31 (autosomal dominant)
    • topoisomerase I binding, arginine/serine-rich
    • topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
  • tripartite motif containing 32
    • BBS11 gene
    • limb girdle muscular dystrophy 2H (autosomal recessive)
    • TAT-interacting protein, 72-kDa
    • tripartite motif-containing 32
  • tubby like protein 1
  • unc-119 lipid binding chaperone
    • human retinal gene 4
    • unc-119 homolog (C. elegans)
    • unc119 (C.elegans) homolog
    • UNC119, C. elegans, homolog of
  • USH1 protein network component harmonin
    • deafness, autosomal recessive 18
    • harmonin
    • PDZ domain-containing protein, 73-kDa
    • Usher syndrome 1C (autosomal recessive, severe)
  • USH1 protein network component sans
    • scaffold protein containing ankyrin repeats and SAM domain
    • USH1G gene
    • Usher syndrome 1G (autosomal recessive)
  • usherin
    • USH2A gene
    • Usher syndrome 2A (autosomal recessive, mild)
  • whirlin
    • CASK-interacting protein, 98-kDa
    • deafness, autosomal recessive 31
  • zinc finger protein 513
2012
Retinal Degeneration Disorders 55 Gene Panel
  • Achromatopsia 3
    • Achromatopsia With Myopia
    • Pingelapese Blindness
    • Rod Monochromacy 1
    • Rod Monochromatism 1
    • Total Colorblindness With Myopia
  • Aland Island Eye Disease
    • Forsius-Eriksson Type Ocular Albinism
  • Bardet-Biedl Syndrome 14
  • Bardet-Biedl Syndrome 3
  • Bestrophinopathy, Autosomal Recessive
    • Bestrophinopathy
  • Bothnia Retinal Dystrophy
    • Vasterbotten Dystrophy
  • Choroidal Dystrophy, Central Areolar 2
    • Macular Dystrophy, Progressive
  • Choroideremia
    • Choroidal Sclerosis, Included
    • Tapetochoroidal Dystrophy, Progressive
  • COACH Syndrome
    • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
    • Joubert Syndrome With Congenital Hepatic Fibrosis
  • Cone Dystrophy 3
    • Cone-Rod Dystrophy 14
    • Retinal Cone Dystrophy
  • Cone-Rod Dystrophy 12
  • Cone-Rod Dystrophy 13
  • Cone-Rod Dystrophy 2
    • Cone-Rod Dystrophy
    • Cone-Rod Retinal Dystrophy
    • Retinal Cone-Rod Dystrophy
  • Cone-Rod Dystrophy 3
  • Cone-Rod Dystrophy 6
    • Retinal Cone Dystrophy 2;
  • Cone-Rod Dystrophy, X-Linked, 1
    • Cone Dystrophy 1, X-Linked
  • Cone-Rod Dystrophy, X-Linked, 3
  • Doyne Honeycomb Retinal Dystrophy
    • Doyne Honeycomb Degeneration Of Retina
  • Enhanced S-Cone Syndrome
    • Favre Hyaloideoretinal Degeneration
    • Goldmann-Favre Syndrome
    • Retinoschisis With Early Hemeralopia
  • Fundus Albipunctatus
    • Retinitis Punctata Albescens
  • Joubert Syndrome 10
  • Joubert Syndrome 5
  • Joubert Syndrome 7
  • Joubert Syndrome 9
  • Late-Onset Retinal Degeneration
    • Retinal Degeneration, Late-Onset, Autosomal Dominant
  • Leber Congenital Amaurosis 1
    • Amaurosis Congenita Of Leber I
    • Retinal Blindness, Congenital
  • Leber Congenital Amaurosis 10
  • Leber Congenital Amaurosis 11
  • Leber Congenital Amaurosis 13
    • Retinitis Pigmentosa 53
  • Leber Congenital Amaurosis 14
    • Retinal Dystrophy, Early-Onset Severe, LRAT-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, LRAT-Related
  • Leber Congenital Amaurosis 15
    • Retinitis Pigmentosa, Juvenile, TULP1-Related
  • Leber Congenital Amaurosis 2
    • Amaurosis Congenita Of Leber II
  • Leber Congenital Amaurosis 3
    • Retinitis Pigmentosa, Juvenile, SPATA7-Related
  • Leber Congenital Amaurosis 4
    • Cone-Rod Dystrophy, AIPL1-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, AIPL1-Related
  • Leber Congenital Amaurosis 5
  • Leber Congenital Amaurosis 6
  • Leber Congenital Amaurosis 7
  • Leber Congenital Amaurosis 8
  • Macular Degeneration, X-Linked Atrophic
  • Macular Dystrophy, Patterned, 1
    • Butterfly Dystrophy Of Retinal Pigment Epithelium
    • Macular Dystrophy, Butterfly-Shaped Pigmentary
    • Patterned Dystrophy Of Retinal Pigment Epithelium
  • Macular Dystrophy, Retinal, 2
  • Macular Dystrophy, Vitelliform, 2
    • Best Disease
    • Best Macular Dystrophy
    • Macular Degeneration, Polymorphic VItelline
    • Macular Dystrophy, Vitelliform
    • Vitelliform Macular Dystrophy
    • Vitelliform Macular Dystrophy, Early-Onset
    • Vitelliform Macular Dystrophy, Juvenile-Onset
  • Macular Dystrophy, Vitelliform, 3
    • Foveomacular Dystrophy, Adult-Onset
    • Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization
    • Macular Dystrophy, Vitelliform, Adult-Onset
    • Vitelliform Macular Dystrophy, Adult-Onset
  • Meckel Syndrome, Type 4
    • Meckel-Gruber Syndrome, Type 4
  • Meckel Syndrome, Type 5
  • Meckel Syndrome, Type 6
  • Newfoundland Rod-Cone Dystrophy
  • Night Blindness, Congenital Stationary, Autosomal Dominant 1
    • Night Blindness, Congenital Stationary, Rhodopsin-Related
  • Night Blindness, Congenital Stationary, Autosomal Dominant 2
    • Night Blindness, Congenital Stationary, Rambusch Type
  • Night Blindness, Congenital Stationary, Type 1C
    • CSNB, Complete, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 2A
    • CSNB, Incomplete, X-Linked
    • Night Blindness, Congenital Stationary, Type 2
  • Oguchi Disease 1
    • Night Blindness, Congenital Stationary, Oguchi Type 1
  • Pigmented Paravenous Chorioretinal Atrophy
  • Retinitis Pigmentosa
  • Retinitis Pigmentosa 1
  • Retinitis Pigmentosa 10
  • Retinitis Pigmentosa 11
  • Retinitis Pigmentosa 12
    • Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
    • RP With Or Without PPRPE
    • RP With Or Without Preserved Paraarteriole Retinal Pigment Epithelium
  • Retinitis Pigmentosa 13
  • Retinitis Pigmentosa 14
  • Retinitis Pigmentosa 18
  • Retinitis Pigmentosa 19
  • Retinitis Pigmentosa 2
    • Retinitis Pigmentosa 2, X-Linked
  • Retinitis Pigmentosa 20
  • Retinitis Pigmentosa 25
  • Retinitis Pigmentosa 26
  • Retinitis Pigmentosa 27
    • Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
  • Retinitis Pigmentosa 3
    • Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women
    • Cone-Rod Degeneration, X-Linked
    • Retinitis Pigmentosa 15
  • Retinitis Pigmentosa 31
  • Retinitis Pigmentosa 37
  • Retinitis Pigmentosa 38
  • Retinitis Pigmentosa 39
  • Retinitis Pigmentosa 40
  • Retinitis Pigmentosa 41
  • Retinitis Pigmentosa 42
  • Retinitis Pigmentosa 43
  • Retinitis Pigmentosa 45
  • Retinitis Pigmentosa 47
  • Retinitis Pigmentosa 49
  • Retinitis Pigmentosa 50
    • Retinitis Pigmentosa, Concentric
  • Retinitis Pigmentosa 55
  • Retinitis Pigmentosa 56
    • Maculopathy, IMPG2-Related
  • Retinitis Pigmentosa 60
  • Retinitis Pigmentosa 7
    • Retinitis Pigmentosa , Digenic
  • Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
  • Senior-Loken Syndrome 6
  • Sorsby Fundus Dystrophy
    • Fundus Dystrophy, Pseudoinflammatory, of Sorsby
  • Stargardt Disease 3
    • Macular Dystrophy With Flecks, Type 3
    • Stargardt-Like Macular Dystrophy, Autosomal Dominant
  • Stargardt Disease 4
  • Usher Syndrome, Type IIA
  • Usher Syndrome, Type IIC
  • Vitreoretinochoroidopathy
    • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
    • Vitreoretinochoroidopathy, Autosomal Dominant
    • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
  • adhesion G protein-coupled receptor V1
    • G protein-coupled receptor 98
    • monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
    • very large G protein-coupled receptor 1
  • ADP ribosylation factor-like 6
    • ADP ribosylation factor like GTPase 6
    • ARF-like 6
    • BBS3 gene
  • aryl hydrocarbon receptor interacting protein-like 1
    • aryl hydrocarbon receptor-interacting protein-like 1
  • ATP-binding cassette, sub-family A, member 4
    • ABC transporter, retina-specific
    • ATP-binding cassette transporter, retina-specific
    • ATP-binding cassette, sub-family A (ABC1), member 4
    • photoreceptor rim protein
    • stargardt disease
  • bestrophin 1
    • best disease
    • vmd2 gene
  • C1q and TNF related 5
    • C1q and tumor necrosis factor related protein 5
  • calcium voltage-gated channel subunit alpha 1F
    • Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)
    • calcium channel, voltage-dependent, L type, alpha 1F subunit
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • ceramide kinase-like
    • retinitis pigmentosa 26 (autosomal recessive)
  • CHM, Rab escort protein 1
    • CHM gene
    • choroideremia (Rab escort protein 1)
    • Rab escort protein 1
    • Rab geranylgeranyltransferase, component A
    • Rab GG transferase
  • coiled-coil and C2 domain containing 2A
  • cone-rod homeobox
    • cone-rod homeobox-containing gene
  • crumbs 1, cell polarity complex component
    • crumbs (Drosophila) homolog 1
    • crumbs homolog 1 (Drosophila)
  • cyclic nucleotide gated channel alpha 1
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 1
    • retinal rod cGMP-gated channel, alpha subunit
  • cyclic nucleotide gated channel beta 1
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 3-like
    • glutamic acid-rich protein 1
    • retinal rod cGMP-gated channel, beta subunit
    • retinal rod cGMP-gated channel, gamma subunit
  • cyclic nucleotide gated channel beta 3
    • achromatopsia (rod monochromacy) 1
    • achromatopsia (rod monochromacy) 3
  • EGF containing fibulin-like extracellular matrix protein 1
    • EGF-containing fibulin-like extracellular matrix protein 1
    • fibrillin-like
    • fibulin 3
  • ELOVL fatty acid elongase 4
    • elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
    • elongation of very long chain fatty acids-like 4
  • eyes shut homolog (Drosophila)
    • EGF-like-domain, multiple 10
    • EGF-like-domain, multiple 11
    • retinitis pigmentosa 25 (autosomal recessive)
    • spacemaker
  • guanylate cyclase 2D, retinal
    • guanylate cyclase 2D, membrane (retina-specific)
    • GUCY2E, mouse, homolog of
  • guanylate cyclase activator 1A
    • chromosome 6 open reading frame 131
    • guanylate cyclase activator 1A (retina)
    • guanylate cyclase-activating protein, photoreceptor 1
    • guanylin 1, retina
  • inosine monophosphate dehydrogenase 1
    • IMP (inosine 5'-monophosphate) dehydrogenase 1
    • IMP (inosine monophosphate) dehydrogenase 1
    • IMP dehydrogenase 1
    • IMP dehydrogenase-like 1
    • inosine-5-prime-monophosphate dehydrogenase, type I
    • leber congenital amaurosis, type XI; lca11, included
  • interphotoreceptor matrix proteoglycan 2
    • spacrcan
  • kelch-like family member 7
    • kelch-like 7 (drosophila)
  • LCA5, lebercilin
    • chromosome 6 open reading frame 152
    • Leber congenital amaurosis 5
    • lebercilin
  • lecithin retinol acyltransferase
    • lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
  • MER proto-oncogene tyrosine kinase
    • c-mer proto-oncogene tyrosine kinase
    • MER tyrosine kinase protooncogene
  • neural retina leucine zipper
    • neural retina-specific gene
    • retinal degeneration, autosomal recessive, clumped pigment type, included
    • retinitis pigmentosa 27,
  • nuclear receptor subfamily 2, group E, member 3
    • nuclear receptor subfamily 2, group e, member 3
    • photoreceptor-specific nuclear receptor
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • peripherin 2
    • peripherin 2 (retinal degeneration, slow)
    • peripherin 2, mouse, homolog of
    • peripherin, photoreceptor type
    • RDS, mouse, homolog of
    • retinal degeneration, slow, mouse, homolog of
    • retinal peripherin
  • phosphodiesterase 6A
    • phosphodiesterase 6A, cGMP-specific, rod, alpha
    • retinal rod photoreceptor cGMP phosphodiesterase, alpha subunit
  • phosphodiesterase 6B
    • phosphodiesterase 6B, cGMP-specific, rod, beta
    • retinal rod photoreceptor cGMP phosphodiesterase, beta subunit
  • pre-mRNA processing factor 3
    • PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)
    • PRP3 pre-mRNA processing factor 3 homolog (yeast)
    • retinitis pigmentosa 18 (autosomal dominant)
  • pre-mRNA processing factor 31
    • precursor mRNA-processing factor 31, s. cerevisiae, homolog of
    • PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
    • PRP31 pre-mRNA processing factor 31 homolog (yeast)
  • pre-mRNA processing factor 6
    • androgen receptor n-terminal domain-transactivating protein 1
    • chromosome 20 open reading frame 14
    • PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
    • PRP6 pre-mRNA processing factor 6 homolog (yeast)
  • pre-mRNA processing factor 8
    • precursor mRNA-processing factor 8, s. cerevisiae, homolog of
    • PRP8 pre-mRNA processing factor 8 homolog (s. cerevisiae)
    • u5 snRNP-specific protein, 220-kd
  • prominin 1
    • CD133 antigen
    • prominin, mouse, homolog-like 1
  • retinal outer segment membrane protein 1
  • retinaldehyde binding protein 1
    • cellular retinaldehyde-binding protein
  • retinitis pigmentosa GTPase regulator
    • retinitis pigmentosa gtpase regulator
  • retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
    • retinol dehydrogenase 12 (all-trans and 9-cis)
  • rhodopsin
    • opsin 2
    • retinitis pigmentosa 4, included; rp4, included
    • retinitis pigmentosa, rhodopsin-related, included
  • RP1, axonemal microtubule associated
    • oxygen-regulated photoreceptor protein 1
    • retinitis pigmentosa 1 (autosomal dominant)
    • RP1 gene
  • RP2, ARL3 GTPase activating protein
    • retinitis pigmentosa 2 (X-linked recessive)
    • RP2 gene
  • RPE65, retinoid isomerohydrolase
    • retinal pigment epithelium-specific protein 65kDa
  • RPGR interacting protein 1
    • retinitis pigmentosa GTPase regulator interacting protein 1
  • RPGRIP1-like
    • nephrocystin 8
  • S-antigen visual arrestin
    • arrestin
    • rod arrestin
    • S-antigen
    • S-antigen; retina and pineal gland (arrestin)
    • S-arrestin
  • spermatogenesis associated 7
    • leber congenital amaurosis 3
  • TIMP metallopeptidase inhibitor 3
    • tissue inhibitor of metalloproteinase 3
    • tissue inhibitor of metalloproteinase 3 (sorsby fundus dystrophy, pseudoinflammatory)
  • TOP1 binding arginine/serine-rich protein
    • retinitis pigmentosa 31 (autosomal dominant)
    • topoisomerase I binding, arginine/serine-rich
    • topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
  • transient receptor potential cation channel, subfamily M, member 1
    • melastatin 1
  • tubby like protein 1
  • usherin
    • USH2A gene
    • Usher syndrome 2A (autosomal recessive, mild)
2014
Retinal Dystrophy 235 Gene Exome Panel
  • Abetalipoproteinemia
  • Achromatopsia 2
    • Colorblindness, Total
    • Rod Monochromacy 2
    • Rod Monochromatism 2
  • Achromatopsia 3
    • Achromatopsia With Myopia
    • Pingelapese Blindness
    • Rod Monochromacy 1
    • Rod Monochromatism 1
    • Total Colorblindness With Myopia
  • Achromatopsia 4
  • Achromatopsia 7
  • Aicardi-Goutieres Syndrome 1
    • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
  • Alagille Syndrome 1
    • Alagille Syndrome
    • Alagille-Watson Syndrome
    • Arteriohepatic Dysplasia
    • Cholestasis With Peripheral Pulmonary Stenosis
    • Hepatic Ductular Hypoplasia, Syndromatic
  • Aland Island Eye Disease
    • Forsius-Eriksson Type Ocular Albinism
  • Alstrom Syndrome
    • Alss
  • Arterial Calcification, Generalized, Of Infancy, 2
  • Bardet-Biedl Syndrome 1
  • Bardet-Biedl Syndrome 10
  • Bardet-Biedl Syndrome 11
  • Bardet-Biedl Syndrome 12
  • Bardet-Biedl Syndrome 13
  • Bardet-Biedl Syndrome 14
  • Bardet-Biedl Syndrome 15
  • Bardet-Biedl Syndrome 16
  • Bardet-Biedl Syndrome 17
  • Bardet-Biedl Syndrome 18
  • Bardet-Biedl Syndrome 19
  • Bardet-Biedl Syndrome 2
  • Bardet-Biedl Syndrome 3
  • Bardet-Biedl Syndrome 4
  • Bardet-Biedl Syndrome 5
  • Bardet-Biedl Syndrome 6
  • Bardet-Biedl Syndrome 7
  • Bardet-Biedl Syndrome 8
  • Bardet-Biedl Syndrome 9
  • Basal Laminar Drusen
  • Bestrophinopathy, Autosomal Recessive
    • Bestrophinopathy
  • Bietti Crystalline Corneoretinal Dystrophy
  • Blue Cone Monochromacy
  • Bothnia Retinal Dystrophy
    • Vasterbotten Dystrophy
  • Boucher-Neuhauser Syndrome
    • Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy
  • Brain Small Vessel Disease With Or Without Ocular Anomalies
    • Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
    • Brain Small Vessel Disease With Hemorrhage
    • Infantile Hemiparesis
    • Leukoencephalopathy With Axenfeld-Rieger Anomaly
    • Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant
  • Cataract 41
  • Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
  • Ceroid Lipofuscinosis, Neuronal, 3
    • Batten Disease
    • Ceroid Lipofuscinosis, Neuronal 3, Juvenile
    • Neuronal Ceroid Lipofuscinosis, Juvenile Type
    • Vogt-Spielmeyer Disease
  • Charcot-Marie-Tooth Disease, Axonal, Type 2W
  • Choroidal Dystrophy, Central Areolar 2
    • Macular Dystrophy, Progressive
  • Choroideremia
    • Choroidal Sclerosis, Included
    • Tapetochoroidal Dystrophy, Progressive
  • COACH Syndrome
    • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
    • Joubert Syndrome With Congenital Hepatic Fibrosis
  • Cohen Syndrome
    • Coh|Hypotonia, Obesity, And Prominent Incisors|Pepper Syndrome|Chs1, Formerly
  • Colorblindness, Partial, Deutan Series
  • Colorblindness, Partial, Protan Series
  • Cone Dystrophy 3
    • Cone-Rod Dystrophy 14
    • Retinal Cone Dystrophy
  • Cone Dystrophy 4
    • Achromatopsia 5
  • Cone-Rod Dystrophy 10
  • Cone-Rod Dystrophy 11
  • Cone-Rod Dystrophy 12
  • Cone-Rod Dystrophy 13
  • Cone-Rod Dystrophy 15
    • Retinitis Pigmentosa 65
  • Cone-Rod Dystrophy 16
    • Retinal Dystrophy With Early Macular Involvement
  • Cone-Rod Dystrophy 18
  • Cone-Rod Dystrophy 19
  • Cone-Rod Dystrophy 2
    • Cone-Rod Dystrophy
    • Cone-Rod Retinal Dystrophy
    • Retinal Cone-Rod Dystrophy
  • Cone-Rod Dystrophy 20
  • Cone-Rod Dystrophy 3
  • Cone-Rod Dystrophy 5
  • Cone-Rod Dystrophy 6
    • Retinal Cone Dystrophy 2;
  • Cone-Rod Dystrophy 7
  • Cone-Rod Dystrophy 9
  • Cone-Rod Dystrophy, X-Linked, 1
    • Cone Dystrophy 1, X-Linked
  • Cone-Rod Dystrophy, X-Linked, 3
  • Cone-Rod Synaptic Disorder, Congenital Nonprogressive
  • Congenital Cataracts, Hearing Loss, And Neurodegeneration
  • Congenital Disorder Of Glycosylation, Type Ia
    • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly
    • Jaeken Syndrome
    • Phosphomannomutase 2 Deficiency
  • Cranioectodermal Dysplasia 4
  • Deafness, Autosomal Dominant 11
  • Deafness, Autosomal Recessive 18A
    • Deafness, Autosomal Recessive 18
  • Deafness, Autosomal Recessive 2
    • Neurosensory Nonsyndromic Recessive Deafness 2
  • Deafness, Autosomal Recessive 23
  • Donnai-Barrow Syndrome
    • Dbs/Foar Syndrome
    • Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
    • Faciooculoacousticorenal Syndrome
  • Doyne Honeycomb Retinal Dystrophy
    • Doyne Honeycomb Degeneration Of Retina
  • Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
  • Enhanced S-Cone Syndrome
    • Favre Hyaloideoretinal Degeneration
    • Goldmann-Favre Syndrome
    • Retinoschisis With Early Hemeralopia
  • Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
  • Exudative Vitreoretinopathy 1
    • Criswick-Schepens Syndrome
    • Exudative Vitreoretinopathy, Familial, Autosomal Dominant
    • Fevr, Autosomal Dominant
    • Retinopathy Of Prematurity, Included
  • Exudative Vitreoretinopathy 2, X-Linked
    • Exudative Vitreoretinopathy, Familial, 2
    • FEVR, X-Linked
  • Exudative Vitreoretinopathy 4
  • Exudative Vitreoretinopathy 5
  • Fleck Retina, Familial Benign
  • Foveal Hypoplasia 2
  • Fundus Albipunctatus
    • Retinitis Punctata Albescens
  • Gyrate Atrophy Of Choroid And Retina
    • Gyrate Atrophy
    • Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
    • OAT Deficiency
    • OKT Deficiency
    • Ornithine Aminotransferase Deficiency
    • Ornithine Keto Acid Aminotransferase Deficiency
    • Ornithine-Delta-Aminotransferase Deficiency
  • Heimler Syndrome 1
    • Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
    • Peroxisome Biogenesis Disorder 1C
  • Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
    • Harp Syndrome
  • Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
    • Hypotrichosis With Cone-Rod Dystrophy
  • Immunodeficiency 13
    • Idiopathic Cd4 Lymphopenia
  • Infantile Cerebellar-Retinal Degeneration
  • Jalili Syndrome
  • Joubert Syndrome 1
    • Cerebellooculorenal Syndrome 1
    • Cerebelloparenchymal Disorder IV
    • Joubert Syndrome
    • Joubert-Boltshauser Syndrome
  • Joubert Syndrome 10
  • Joubert Syndrome 12
  • Joubert Syndrome 13
  • Joubert Syndrome 14
  • Joubert Syndrome 15
  • Joubert Syndrome 16
  • Joubert Syndrome 17
  • Joubert Syndrome 18
  • Joubert Syndrome 19
  • Joubert Syndrome 2
    • Cerebellooculorenal Syndrome 2
  • Joubert Syndrome 20
  • Joubert Syndrome 21
  • Joubert Syndrome 22
  • Joubert Syndrome 24
    • 0
  • Joubert Syndrome 3
  • Joubert Syndrome 4
  • Joubert Syndrome 6
  • Joubert Syndrome 7
  • Joubert Syndrome 8
  • Joubert Syndrome 9
  • Kniest Dysplasia
  • Late-Onset Retinal Degeneration
    • Retinal Degeneration, Late-Onset, Autosomal Dominant
  • Laurence-Moon Syndrome
  • Leber Congenital Amaurosis 1
    • Amaurosis Congenita Of Leber I
    • Retinal Blindness, Congenital
  • Leber Congenital Amaurosis 11
  • Leber Congenital Amaurosis 12
  • Leber Congenital Amaurosis 13
    • Retinitis Pigmentosa 53
  • Leber Congenital Amaurosis 14
    • Retinal Dystrophy, Early-Onset Severe, LRAT-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, LRAT-Related
  • Leber Congenital Amaurosis 15
    • Retinitis Pigmentosa, Juvenile, TULP1-Related
  • Leber Congenital Amaurosis 16
  • Leber Congenital Amaurosis 2
    • Amaurosis Congenita Of Leber II
  • Leber Congenital Amaurosis 3
    • Retinitis Pigmentosa, Juvenile, SPATA7-Related
  • Leber Congenital Amaurosis 4
    • Cone-Rod Dystrophy, AIPL1-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, AIPL1-Related
  • Leber Congenital Amaurosis 5
  • Leber Congenital Amaurosis 6
  • Leber Congenital Amaurosis 7
  • Leber Congenital Amaurosis 8
  • Leber Congenital Amaurosis 9
  • Linear Skin Defects With Multiple Congenital Anomalies 1
    • Microphthalmia With Linear Skin Defects
    • Microphthalmia, Dermal Aplasia, And Sclerocornea
    • Microphthalmia, Syndromic 7
    • Midas Syndrome
  • Macular Degeneration, Age-Related, 1
  • Macular Degeneration, Age-Related, 2
    • Macular Degeneration, Senile
    • Maculopathy, Age-Related, 2
  • Macular Degeneration, Age-Related, 6
  • Macular Degeneration, X-Linked Atrophic
  • Macular Dystrophy, Patterned, 1
    • Butterfly Dystrophy Of Retinal Pigment Epithelium
    • Macular Dystrophy, Butterfly-Shaped Pigmentary
    • Patterned Dystrophy Of Retinal Pigment Epithelium
  • Macular Dystrophy, Retinal, 2
  • Macular Dystrophy, Vitelliform, 2
    • Best Disease
    • Best Macular Dystrophy
    • Macular Degeneration, Polymorphic VItelline
    • Macular Dystrophy, Vitelliform
    • Vitelliform Macular Dystrophy
    • Vitelliform Macular Dystrophy, Early-Onset
    • Vitelliform Macular Dystrophy, Juvenile-Onset
  • Macular Dystrophy, Vitelliform, 3
    • Foveomacular Dystrophy, Adult-Onset
    • Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization
    • Macular Dystrophy, Vitelliform, Adult-Onset
    • Vitelliform Macular Dystrophy, Adult-Onset
  • Macular Dystrophy, Vitelliform, 4
  • Macular Dystrophy, Vitelliform, 5
  • Marshall Syndrome
  • McKusick-Kaufman Syndrome
    • Hydrometrocolpos Syndrome
    • Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation
    • Kaufman-Mckusick Syndrome
  • Meckel Syndrome, Type 1
    • Dysencephalia Splanchnocystica
    • Gruber Syndrome
    • Meckel Syndrome
    • Meckel-Gruber Syndrome
    • Meckel-Gruber Syndrome, Type 1
  • Meckel Syndrome, Type 10
  • Meckel Syndrome, Type 11
  • Meckel Syndrome, Type 2
  • Meckel Syndrome, Type 3
    • Meckel-Gruber Syndrome, Type 3
  • Meckel Syndrome, Type 5
  • Meckel Syndrome, Type 6
  • Meckel Syndrome, Type 7
    • Goldston Syndrome
    • Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst
  • Meckel Syndrome, Type 8
  • Meckel Syndrome, Type 9
  • Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
  • Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
  • Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
    • 0
  • Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
  • Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
    • Cdmmr Syndrome
    • Lymphedema And Retinal Folds With Microcephaly And Microphthalmos
    • Lymphedema, Microcephaly, Chorioretinopathy Syndrome
    • Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant
    • Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome
    • Mlcrd Syndrome
  • Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
  • Microphthalmia, Isolated, With Coloboma 10
  • Mucolipidosis III Gamma
    • Ml III Gamma
    • Mucolipidosis III, Complementation Group C
    • Mucolipidosis III, Iranian Variant Form
    • Mucolipidosis III, Variant Form
    • Mucolipidosis IIIc
  • Muscular Dystrophy, Limb-Girdle, Type 2H
    • Muscular Dystrophy, Hutterite Type
    • Sarcotubular Myopathy
  • Nephronophthisis 1
    • Nephronophthisis, Familial Juvenile
    • Nph1
  • Nephronophthisis 11
  • Nephronophthisis 13
  • Nephronophthisis 14
  • Nephronophthisis 15
  • Nephronophthisis 2
  • Nephronophthisis 3
  • Nephronophthisis 4
  • Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
  • Newfoundland Rod-Cone Dystrophy
  • Night Blindness, Congenital Stationary, Autosomal Dominant 1
    • Night Blindness, Congenital Stationary, Rhodopsin-Related
  • Night Blindness, Congenital Stationary, Autosomal Dominant 2
    • Night Blindness, Congenital Stationary, Rambusch Type
  • Night Blindness, Congenital Stationary, Autosomal Dominant 3
  • Night Blindness, Congenital Stationary, Type 1A
    • Csnb, Complete, X-Linked
    • Hemeralopia-Myopia
    • Myopia-Night Blindness
    • Night Blindness, Congenital Stationary, With Myopia
    • Nyctalopia, Included
  • Night Blindness, Congenital Stationary, Type 1B
    • Night Blindness, Congenital Stationary, Complete, Autosomal Recessive|Csnb, Complete, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1C
    • CSNB, Complete, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1D
    • Csnb, Complete, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1E
    • CSNB, Complete, Autosomal Recessive
    • Night Blindness, Congenital Stationary (Complete), 1E, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1F
  • Night Blindness, Congenital Stationary, Type 1G
  • Night Blindness, Congenital Stationary, Type 2A
    • CSNB, Incomplete, X-Linked
    • Night Blindness, Congenital Stationary, Type 2
  • Norrie Disease
    • Atrophia Bulborum Hereditaria
    • Episkopi Blindness
    • Exudative Retinopathy, X-Linked, Included
    • Nd
    • Norrie Disease Protein, Included
    • Norrin, Included
    • Pseudoglioma
  • Occult Macular Dystrophy
  • Oguchi Disease 1
    • Night Blindness, Congenital Stationary, Oguchi Type 1
  • Oguchi Disease 2
  • Oliver-Mcfarlane Syndrome
  • Orofaciodigital Syndrome IV
    • Baraitser-Burn Syndrome
    • Mohr-Majewski Syndrome
    • OFD Syndrome With Tibial Defects
    • OFD Syndrome, Baraitser-Burn Type
    • Oral-Facial-Digital Syndrome, Type IV
  • Osteopetrosis, Autosomal Dominant 1
    • Osteopetrosis, Autosomal Dominant, Type I
  • Osteoporosis-Pseudoglioma Syndrome
    • Osteogenesis Imperfecta, Ocular Form
  • Peroxisome Biogenesis Disorder 1a (Zellweger)
    • Cerebrohepatorenal Syndrome
    • Zellweger syndrome
  • Peroxisome Biogenesis Disorder 1b
    • Infantile Phytanic Acid Storage Disease
    • Peroxisome Biogenesis Disorder (NALD/IRD)|Adrenoleukodystrophy, Autosomal Neonatal
    • Peroxisome Biogenesis Disorder (Neonatal Adrenoleukodystrophy/Infantile Refsum Disease)
    • Refsum Disease, Infantile
  • Peroxisome Biogenesis Disorder 5a (Zellweger)
  • Peroxisome Biogenesis Disorder 5b
  • Peroxisome Biogenesis Disorder 9b
    • Peroxisome Biogenesis Disorder, PEX7-Related, Atypical
    • Refsum Disease, Adult, 2
  • Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
    • Persistent Fetal Vasculature
    • Retinal Nonattachment And Falciform Detachment
    • Retinal Nonattachment, Nonsyndromic Congenital
  • Phosphoglycerate Kinase 1 Deficiency
    • PGK1 Deficiency
  • Pierson Syndrome
  • Pigmented Paravenous Chorioretinal Atrophy
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
    • .
  • Posterior Column Ataxia With Retinitis Pigmentosa
  • Prolonged Electroretinal Response Suppression
    • Bradyopsia
  • Pseudoxanthoma Elasticum
    • Gronblad-Strandberg Syndrome
  • Pseudoxanthoma Elasticum, Forme Fruste
  • Refsum Disease, Classic
    • Hereditary Motor And Sensory Neuropathy IV
    • Heredopathia Atactica Polyneuritiformis
    • Phytanic Acid Oxidase Deficiency
    • Refsum Disease, Adult, 1
  • Renal-Hepatic-Pancreatic Dysplasia 1
  • Retinal Arteries, Tortuosity Of
  • Retinal Cone Dystrophy 3A
    • Achromatopsia 6, Included
    • Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Pde6h-Related
  • Retinal Cone Dystrophy 3B
    • Cone Dystrophy With Night Blindness And Supernormal Rod Responses, KCNV2-Related
    • Cone Dystrophy With Supernormal Rod Responses
  • Retinal Cone Dystrophy 4
  • Retinal Dystrophy And Obesity
  • Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
  • Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
  • Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
  • Retinitis Pigmentosa 1
  • Retinitis Pigmentosa 10
  • Retinitis Pigmentosa 11
  • Retinitis Pigmentosa 12
    • Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
    • RP With Or Without PPRPE
    • RP With Or Without Preserved Paraarteriole Retinal Pigment Epithelium
  • Retinitis Pigmentosa 13
  • Retinitis Pigmentosa 14
  • Retinitis Pigmentosa 17
  • Retinitis Pigmentosa 18
  • Retinitis Pigmentosa 19
  • Retinitis Pigmentosa 2
    • Retinitis Pigmentosa 2, X-Linked
  • Retinitis Pigmentosa 23
  • Retinitis Pigmentosa 25
  • Retinitis Pigmentosa 26
  • Retinitis Pigmentosa 27
    • Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
  • Retinitis Pigmentosa 28
  • Retinitis Pigmentosa 3
    • Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women
    • Cone-Rod Degeneration, X-Linked
    • Retinitis Pigmentosa 15
  • Retinitis Pigmentosa 30
  • Retinitis Pigmentosa 31
  • Retinitis Pigmentosa 33
  • Retinitis Pigmentosa 35
  • Retinitis Pigmentosa 36
  • Retinitis Pigmentosa 37
  • Retinitis Pigmentosa 38
  • Retinitis Pigmentosa 39
  • Retinitis Pigmentosa 4
    • Retinitis Pigmentosa, Rhodopsin-Related
  • Retinitis Pigmentosa 40
  • Retinitis Pigmentosa 41
  • Retinitis Pigmentosa 42
  • Retinitis Pigmentosa 43
  • Retinitis Pigmentosa 44
  • Retinitis Pigmentosa 45
  • Retinitis Pigmentosa 46
  • Retinitis Pigmentosa 47
  • Retinitis Pigmentosa 48
  • Retinitis Pigmentosa 49
  • Retinitis Pigmentosa 50
    • Retinitis Pigmentosa, Concentric
  • Retinitis Pigmentosa 51
  • Retinitis Pigmentosa 54
  • Retinitis Pigmentosa 55
  • Retinitis Pigmentosa 56
    • Maculopathy, IMPG2-Related
  • Retinitis Pigmentosa 57
  • Retinitis Pigmentosa 58
  • Retinitis Pigmentosa 59
  • Retinitis Pigmentosa 60
  • Retinitis Pigmentosa 61
  • Retinitis Pigmentosa 62
  • Retinitis Pigmentosa 66
  • Retinitis Pigmentosa 67
  • Retinitis Pigmentosa 68
  • Retinitis Pigmentosa 69
  • Retinitis Pigmentosa 7
    • Retinitis Pigmentosa , Digenic
  • Retinitis Pigmentosa 70
  • Retinitis Pigmentosa 71
  • Retinitis Pigmentosa 74
  • Retinitis Pigmentosa 9
  • Retinitis Pigmentosa With Or Without Situs Inversus
  • Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
  • Retinoblastoma
    • Osteosarcoma, Retinoblastoma-Related, Included
    • P105-Rb, Included
    • Rb
  • Retinoschisis 1, X-Linked, Juvenile
    • Retinoschisin, Included
    • Retinoschisis 1 Gene, Included
    • Rs
    • XLRS1
  • Rhizomelic Chondrodysplasia Punctata, Type 1
    • Chondrodysplasia Punctata, Rhizomelic Form
    • Chondrodystrophia Calcificans Punctata
  • Senior-Loken Syndrome 1
    • Juvenile Nephronophthisis With Leber Amaurosis
    • Loken-Senior Syndrome
    • Renal Dysplasia And Retinal Aplasia
    • Renal-Retinal Syndrome
    • Senior-Loken Syndrome
  • Senior-Loken Syndrome 4
  • Senior-Loken Syndrome 5
  • Senior-Loken Syndrome 7
  • Senior-Loken Syndrome 8
  • Septooptic Dysplasia
    • De Morsier Syndrome
    • Pituitary Hormone Deficiency, Combined 5, Included
  • Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
    • Asphyxiating Thoracic Dystrophy 5
  • Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
    • Conorenal Syndrome
    • Mainzer-Saldino Syndrome
    • Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia
  • Sorsby Fundus Dystrophy
    • Fundus Dystrophy, Pseudoinflammatory, of Sorsby
  • Spondyloepiphyseal Dysplasia Congenita
    • Sed Congenita
    • Spondyloepiphyseal Dysplasia, Congenital Type
  • Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
  • Stargardt Disease 1
    • Macular Degeneration, Juvenile
    • Macular Dystrophy With Flecks, Type 1
  • Stargardt Disease 3
    • Macular Dystrophy With Flecks, Type 3
    • Stargardt-Like Macular Dystrophy, Autosomal Dominant
  • Stargardt Disease 4
  • Stickler Syndrome, Type I
    • Arthroophthalmopathy, Hereditary Progressive
    • Stickler Syndrome, Membranous VItreous Type
    • Stickler Syndrome, VItreous Type 1
  • Stickler Syndrome, Type I, Nonsyndromic Ocular
    • Stickler Syndrome, Atypical
    • Stickler Syndrome, Type I, Predominantly Ocular
  • Stickler Syndrome, Type II
    • Stickler Syndrome, Beaded VItreous Type
    • Stickler Syndrome, VItreous Type 2
  • Stickler Syndrome, Type IV
  • Sveinsson Chorioretinal Atrophy
    • Atrophia Areata
    • Helicoidal Peripapillary Chorioretinal Degeneration
    • Peripapillary Chorioretinal Degeneration, Icelandic Type
  • Tritanopia
  • Usher Syndrome, Type I
    • Retinitis Pigmentosa And Congenital Deafness
    • Usher Syndrome, Type I, French Variety
    • Usher Syndrome, Type IA
    • Usher Syndrome, Type IB
  • Usher Syndrome, Type IC
    • Usher Syndrome, Type I, Acadian Variety
  • Usher Syndrome, Type ID
    • CDH23/PCDH15, Digenic
    • Usher Syndrome, Type ID/F
  • Usher Syndrome, Type IF
  • Usher Syndrome, Type IG
  • Usher Syndrome, Type IIA
  • Usher Syndrome, Type IIC
  • Usher Syndrome, Type IIIA
    • Usher Syndrome, Type III
  • Usher Syndrome, Type IIIB
  • Usher Syndrome, Type IJ
  • Van Buchem Disease, Type 2
  • Vasculopathy, Retinal, With Cerebral Leukodystrophy
  • Vitamin E, Familial Isolated Deficiency Of
    • Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency
    • Friedreich-Like Ataxia
  • Vitreoretinal Degeneration, Snowflake Type
  • Vitreoretinochoroidopathy
    • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
    • Vitreoretinochoroidopathy, Autosomal Dominant
    • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
  • Vitreoretinopathy, Neovascular Inflammatory
  • Wagner Vitreoretinopathy
    • Erosive VItreoretinopathy
    • Hyaloideoretinal Degeneration Of Wagner
    • Wagner Syndrome 1
    • Wagner VItreoretinal Degeneration
  • Wolfram Syndrome 1
    • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness
    • Wolfram Syndrome
  • Wolfram-Like Syndrome, Autosomal Dominant
    • .
  • Abelson helper integration site 1
    • Abelson helper integration site
    • Jouberin
  • abhydrolase domain containing 12
    • ABHD12A
    • BEM46L2
    • chromosome 20 open reading frame 22
    • dJ965G21.2
    • DKFZP434P106
  • aconitase 2
    • ACONM
  • activating transcription factor 6
    • ATF6A
  • acyl-CoA binding domain containing 5
    • acyl-Coenzyme A binding domain containing 5
    • DKFZp434A2417
    • KIAA1996
  • ADAM metallopeptidase domain 9
    • a disintegrin and metalloproteinase domain 9 (meltrin gamma)
    • cone rod dystrophy 9
    • metalloproteinase-like, disintegrin-like, and cysteine-rich protein 9
    • myeloma cell metalloproteinase
  • ADAM metallopeptidase with thrombospondin type 1 motif, 18
    • 0
  • adhesion G protein-coupled receptor A3
    • FLJ38547
    • G protein-coupled receptor 125
  • adhesion G protein-coupled receptor V1
    • G protein-coupled receptor 98
    • monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
    • very large G protein-coupled receptor 1
  • ADP ribosylation factor like GTPase 2 binding protein
    • BART
    • BART1
  • ADP ribosylation factor-like 13B
    • ARL2-like protein 1
  • ADP ribosylation factor-like 6
    • ADP ribosylation factor like GTPase 6
    • ARF-like 6
    • BBS3 gene
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
  • alpha tocopherol transfer protein
    • ataxia (Friedreich-like) with vitamin E deficiency
    • tocopherol (alpha) transfer protein
  • aryl hydrocarbon receptor interacting protein-like 1
    • aryl hydrocarbon receptor-interacting protein-like 1
  • atonal bHLH transcription factor 7
    • atonal homolog 7 (Drosophila)
    • atonal homolog bHLH transcription factor 7
  • ATP-binding cassette, sub-family A, member 4
    • ABC transporter, retina-specific
    • ATP-binding cassette transporter, retina-specific
    • ATP-binding cassette, sub-family A (ABC1), member 4
    • photoreceptor rim protein
    • stargardt disease
  • ATP-binding cassette, sub-family C, member 6
    • anthracycline resistance-associated protein
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 6
    • multidrug resistance-associated protein 6
    • pseudoxanthoma elasticum
  • B9 domain containing 1
    • B9 protein domain 1
  • B9 protein domain 2
  • Bardet-Biedl syndrome 1
    • BBS1 gene
  • Bardet-Biedl syndrome 10
    • BBS10 gene
    • chromosome 12 open reading frame 58
  • Bardet-Biedl syndrome 12
    • chromosome 4 open reading frame 24
  • Bardet-Biedl syndrome 2
    • BBS2 gene
  • Bardet-Biedl syndrome 4
    • BBS4 gene
  • Bardet-Biedl syndrome 5
    • BBS5 gene
  • Bardet-Biedl syndrome 7
    • BBS7 gene
  • Bardet-Biedl syndrome 9
    • BBS9 gene
    • parathyroid hormone-responsive B1 gene
    • PTH-responsive B1 gene
  • BBSome interacting protein 1
  • bestrophin 1
    • best disease
    • vmd2 gene
  • bone morphogenetic protein 7
    • OP-1
  • C1q and TNF related 5
    • C1q and tumor necrosis factor related protein 5
  • cadherin 3
  • cadherin-related 23
    • cadherin related 23
    • cadherin-like 23
    • cadherin-related family, member 23
    • otocadherin
  • cadherin-related family member 1
    • photoreceptor cadherin
    • protocadherin 21
  • calcium and integrin binding family member 2
    • deafness, autosomal recessive 48
    • KIP2
    • Usher syndrome 1J (autosomal recessive)
  • calcium binding protein 4
    • CSNB2B
  • calcium voltage-gated channel auxiliary subunit alpha2delta 4
    • calcium channel, voltage-dependent, alpha 2/delta subunit 4
  • calcium voltage-gated channel subunit alpha 1F
    • Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)
    • calcium channel, voltage-dependent, L type, alpha 1F subunit
  • calpain 5
    • ADNIV
    • HTRA3
    • nCL-3
  • carbonic anhydrase 4
    • carbonic anhydrase IV
    • retinitis pigmentosa 17 (autosomal dominant)
  • centrosomal protein 164
    • centrosomal protein 164kDa
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • centrosomal protein 41
    • centrosomal protein 41kDa
    • testis specific, 14
    • testis-specific protein A14 testis-specific protein 14
  • centrosome and spindle pole associated protein 1
  • ceramide kinase-like
    • retinitis pigmentosa 26 (autosomal recessive)
  • CHM, Rab escort protein 1
    • CHM gene
    • choroideremia (Rab escort protein 1)
    • Rab escort protein 1
    • Rab geranylgeranyltransferase, component A
    • Rab GG transferase
  • chromosome 2 open reading frame 71
    • FLJ34931
    • RP54
  • chromosome 21 open reading frame 2
    • A2
    • LRRC76
    • YF5
  • chromosome 5 open reading frame 42
  • chromosome 8 open reading frame 37
    • BBS21
    • CORD16
    • FLJ30600
    • RP64
  • clarin 1
    • USH3A gene
    • Usher syndrome 3A
  • CLN3, battenin
    • batten, spielmeyer-vogt disease
    • battenin
    • ceroid-lipofuscinosis, neuronal 3
    • cln3 gene
    • juvenile neuronal ceroid lipofuscinosis
  • coiled-coil and C2 domain containing 2A
  • collagen, type II, alpha 1 chain
    • AOM
    • chondrocalcin, included
    • collagen of cartilage
    • collagen, type II
    • collagen, type II, alpha 1
    • collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC
    • vitreoretinopathy with phalangeal epiphyseal dysplasia, included
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • collagen, type IX, alpha 1
  • collagen, type XI, alpha 1 chain
    • collagen, type XI, alpha 1
    • collagen, type XI, alpha-1
  • complement factor H
    • age-related maculopathy susceptibility 1
    • beta-1H
    • complement factor H
    • factor H
    • factor H and factor H-like 1, combined deficiency of, included
    • factor H-like 1, included
    • H factor 1
    • H factor 2 (complement)
  • cone-rod homeobox
    • cone-rod homeobox-containing gene
  • crumbs 1, cell polarity complex component
    • crumbs (Drosophila) homolog 1
    • crumbs homolog 1 (Drosophila)
  • cyclic nucleotide gated channel alpha 1
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 1
    • retinal rod cGMP-gated channel, alpha subunit
  • cyclic nucleotide gated channel alpha 3
    • cone photoreceptor cGMP-gated channel
    • cyclic nucleotide-gated channel, olfactory, 3
  • cyclic nucleotide gated channel beta 1
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated
    • cyclic nucleotide-gated channel, photoreceptor, cGMP-gated, 3-like
    • glutamic acid-rich protein 1
    • retinal rod cGMP-gated channel, beta subunit
    • retinal rod cGMP-gated channel, gamma subunit
  • cyclic nucleotide gated channel beta 3
    • achromatopsia (rod monochromacy) 1
    • achromatopsia (rod monochromacy) 3
  • cyclin and CBS domain divalent metal cation transport mediator 4
    • KIAA1592
  • cytochrome P450, family 4, subfamily V, member 2
    • CYP4AH1
  • DEAH-box helicase 38
    • hPrp16
    • KIAA0224
    • PRP16
    • PRPF16
  • dehydrodolichyl diphosphate synthase subunit
    • DEDOL-PP synthase
    • dehydrodolichyl diphosphate synthase
  • EGF containing fibulin-like extracellular matrix protein 1
    • EGF-containing fibulin-like extracellular matrix protein 1
    • fibrillin-like
    • fibulin 3
  • ELOVL fatty acid elongase 4
    • elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
    • elongation of very long chain fatty acids-like 4
  • ER membrane protein complex subunit 1
    • 0
  • eyes shut homolog (Drosophila)
    • EGF-like-domain, multiple 10
    • EGF-like-domain, multiple 11
    • retinitis pigmentosa 25 (autosomal recessive)
    • spacemaker
  • family with sequence similarity 161, member A
    • retinitis pigmentosa 28 (autosomal recessive)
  • fascin actin-bundling protein 2, retinal
    • fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)
    • fascin, retinal
    • fascin, sea urchin, homolog of, 2
  • feline leukemia virus subgroup C cellular receptor 1
    • ataxia, posterior column 1, with retinitis pigmentosa
  • frizzled class receptor 4
    • frizzled homolog 4 (drosophila)
  • G protein subunit alpha transducin 1
    • CSNBAD3
  • G protein subunit alpha transducin 2
    • G protein, alpha-transducing 2
    • guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
    • guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2
    • transducin, cone-specific, alpha polypeptide
  • G protein-coupled receptor 179
    • CSNB1E
  • G protein-coupled receptor kinase 1
    • GPRK1
    • RK
  • glutamate metabotropic receptor 6
    • CSNB1B
    • GPRC1F
    • mGlu6
    • MGLUR6
  • guanylate cyclase 2D, retinal
    • guanylate cyclase 2D, membrane (retina-specific)
    • GUCY2E, mouse, homolog of
  • guanylate cyclase activator 1A
    • chromosome 6 open reading frame 131
    • guanylate cyclase activator 1A (retina)
    • guanylate cyclase-activating protein, photoreceptor 1
    • guanylin 1, retina
  • guanylate cyclase activator 1B
    • guanylate cyclase activator 1b (retina)
    • guanylate cyclase-activating protein, photoreceptor 2
    • guanylin 2, retina
  • hemicentin 1
    • FBLN6
    • FIBL-6
    • FIBL6
  • HESX homeobox 1
  • hexokinase 1
    • 0
  • histidyl-tRNA synthetase
  • holocytochrome c synthase
    • holocytochrome c synthase (cytochrome c heme-lyase)
    • microphthalamia with linear skin defects
  • inosine monophosphate dehydrogenase 1
    • IMP (inosine 5'-monophosphate) dehydrogenase 1
    • IMP (inosine monophosphate) dehydrogenase 1
    • IMP dehydrogenase 1
    • IMP dehydrogenase-like 1
    • inosine-5-prime-monophosphate dehydrogenase, type I
    • leber congenital amaurosis, type XI; lca11, included
  • inositol polyphosphate-5-phosphatase E
    • inositol polyphosphate-5-phosphatase, 72 kDa
    • Joubert syndrome 1
  • integral membrane protein 2B
  • interphotoreceptor matrix proteoglycan 1
    • GP147
    • IPM150
  • interphotoreceptor matrix proteoglycan 2
    • spacrcan
  • intraflagellar transport 140
  • intraflagellar transport 172
  • intraflagellar transport 27
  • inversin
  • IQ motif containing B1
  • isocitrate dehydrogenase 3 (NAD+) beta
    • isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit
  • jagged 1
    • (alagille syndrome)
    • deafness, congenital heart defects, and posterior embryotoxon, included
    • jagged 1
  • kelch-like family member 7
    • kelch-like 7 (drosophila)
  • KIAA1549
    • 0
  • kinesin family member 11
    • Eg5
    • HKSP
    • TRIP5
  • kinesin family member 7
  • kizuna centrosomal protein
    • HT013
  • laminin subunit beta 2
    • laminin s
    • laminin, beta 2 (laminin S)
    • laminin, beta-2
  • LCA5, lebercilin
    • chromosome 6 open reading frame 152
    • Leber congenital amaurosis 5
    • lebercilin
  • LDL receptor related protein 2
  • LDL receptor related protein 5
    • low density lipoprotein receptor-related protein 5
    • low density lipoprotein receptor-related protein 7
  • lecithin retinol acyltransferase
    • lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
  • leucine rich repeat, Ig-like and transmembrane domains 3
    • CSNB1F
    • FIGLER4
    • FLJ44691
  • leucine zipper transcription factor like 1
  • male germ cell associated kinase
    • dJ417M14.2
    • RP62
  • McKusick-Kaufman syndrome
    • BBS6 gene
    • MKKS gene
  • Meckel syndrome, type 1
  • MER proto-oncogene tyrosine kinase
    • c-mer proto-oncogene tyrosine kinase
    • MER tyrosine kinase protooncogene
  • mevalonate kinase
    • lh receptor mrna-binding protein
    • mevalonate kinase
    • mevalonate kinase (mevalonic aciduria)
    • mevalonate kinase deficiency, included
    • mevalonicaciduria, included
  • microsomal triglyceride transfer protein
    • ABL
  • myosin VIIA
    • myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
    • myosin, unconventional, family VII, member A
  • N-acetylglucosamine-1-phosphate transferase, gamma subunit
  • NDP, norrin cystine knot growth factor
    • atrophia bulborum hereditaria
    • episkopi blindness
    • exudative retinopathy, x-linked, included
    • nd
    • norrie disease
    • norrie disease protein, included
    • norrin (pseudoglioma)
    • norrin, included
    • pseudoglioma
  • nephrocystin 1
    • nephrocystin-1
    • nephronophthisis 1 (juvenile)
    • nephronophthisis, familial juvenile
  • nephrocystin 3
    • nephronophthisis 3 (adolescent)
  • nephrocystin 4
    • nephronophthisis 4
  • neural retina leucine zipper
    • neural retina-specific gene
    • retinal degeneration, autosomal recessive, clumped pigment type, included
    • retinitis pigmentosa 27,
  • neuronal differentiation 1
    • beta-cell e-box transactivator 2
    • neurogenic differentiation 1
    • neurogenic helix-loop-helix protein neurod
  • nicotinamide nucleotide adenylyltransferase 1
    • NMNAT
    • PNAT1
  • NIMA related kinase 2
    • NEK2A
    • NLK1
    • PPP1R111
    • RP67
  • nuclear receptor subfamily 2, group E, member 3
    • nuclear receptor subfamily 2, group e, member 3
    • photoreceptor-specific nuclear receptor
  • nyctalopin
    • CLRP
    • CSNB1A
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • opsin 1, long wave sensitive
    • COD5
  • opsin 1, medium wave sensitive
    • COD5
    • OPN1MW1
  • opsin 1, short wave sensitive
    • BOP
    • CBT
  • ornithine aminotransferase
  • pantothenate kinase 2
    • neurodegeneration with brain iron accumulation 1 (hallervorden-spatz syndrome)
    • pantothenate kinase 2
  • patatin-like phospholipase domain containing 6
  • PDZ domain containing 7
  • peripherin 2
    • peripherin 2 (retinal degeneration, slow)
    • peripherin 2, mouse, homolog of
    • peripherin, photoreceptor type
    • RDS, mouse, homolog of
    • retinal degeneration, slow, mouse, homolog of
    • retinal peripherin
  • peroxisomal biogenesis factor 1
    • peroxin 1
  • peroxisomal biogenesis factor 2
    • peroxisomal membrane protein 3 (35kD, Zellweger syndrome)
    • peroxisomal membrane protein 3, 35kDa
  • peroxisomal biogenesis factor 7
    • peroxin 7
    • peroxisomal pts2 receptor
    • peroxisome biogenesis factor 7
  • phosphate cytidylyltransferase 1, choline, alpha
    • CT
    • CTPCT
  • phosphodiesterase 6A
    • phosphodiesterase 6A, cGMP-specific, rod, alpha
    • retinal rod photoreceptor cGMP phosphodiesterase, alpha subunit
  • phosphodiesterase 6B
    • phosphodiesterase 6B, cGMP-specific, rod, beta
    • retinal rod photoreceptor cGMP phosphodiesterase, beta subunit
  • phosphodiesterase 6C
    • phosphodiesterase 6C, cGMP-specific, cone, alpha prime
  • phosphodiesterase 6D
  • phosphodiesterase 6G
    • phosphodiesterase 6G, cGMP-specific, rod, gamma
    • retinal rod photoreceptor cGMP phosphodiesterase, gamma subunit
  • phosphodiesterase 6H
    • 0
  • phosphoglycerate kinase 1
    • 3-phosphoglycerokinase
  • phospholipase A2, group V
    • 0
  • phosphomannomutase 2
  • photoreceptor disc component
    • progressive rod-cone degeneration
  • phytanoyl-CoA 2-hydroxylase
    • phytanoyl-CoA hydroxylase
    • phytanoyl-CoA hydroxylase (Refsum disease)
  • PITPNM family member 3
    • phosphatidylinositol transfer protein, membrane-associated, 3
    • PYK2 N-terminal domain-interacting receptor 1
  • POC1 centriolar protein B
  • polo like kinase 4
    • Sak
  • potassium voltage-gated channel modifier subfamily V member 2
    • potassium channel, subfamily V, member 2
  • potassium voltage-gated channel subfamily J member 13
    • Kir1.4
    • Kir7.1
    • LCA16
  • pre-mRNA processing factor 3
    • PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)
    • PRP3 pre-mRNA processing factor 3 homolog (yeast)
    • retinitis pigmentosa 18 (autosomal dominant)
  • pre-mRNA processing factor 31
    • precursor mRNA-processing factor 31, s. cerevisiae, homolog of
    • PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
    • PRP31 pre-mRNA processing factor 31 homolog (yeast)
  • pre-mRNA processing factor 4
    • HPRP4
    • HPRP4P
    • PRP4
    • Prp4p
    • SNRNP60
  • pre-mRNA processing factor 6
    • androgen receptor n-terminal domain-transactivating protein 1
    • chromosome 20 open reading frame 14
    • PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
    • PRP6 pre-mRNA processing factor 6 homolog (yeast)
  • pre-mRNA processing factor 8
    • precursor mRNA-processing factor 8, s. cerevisiae, homolog of
    • PRP8 pre-mRNA processing factor 8 homolog (s. cerevisiae)
    • u5 snRNP-specific protein, 220-kd
  • prominin 1
    • CD133 antigen
    • prominin, mouse, homolog-like 1
  • protocadherin-related 15
    • deafness, autosomal recessive 23
    • protocadherin 15
  • RAB28, member RAS oncogene family
    • 0
  • RB transcriptional corepressor 1
    • osteosarcoma
    • osteosarcoma, retinoblastoma-related, included
    • p105-RB, included
    • retinoblastoma
    • retinoblastoma 1
  • regulating synaptic membrane exocytosis 1
    • protein regulating synaptic membrane exocytosis 1
    • RAB3 interacting protein 2
  • regulator of G protein signaling 9
    • regulator of G-protein signalling 9
  • regulator of G protein signaling 9 binding protein
    • FLJ45744
    • PERRS
    • R9AP
    • RGS9
  • retina and anterior neural fold homeobox 2
    • Q50-type retinal homeobox
    • retina and anterior neural fold homeobox like 1
  • retinal degeneration 3
    • chromosome 1 open reading frame 36
    • retinal degeneration 3, mouse, homolog of
  • retinal G protein coupled receptor
    • RPE-retinal G protein-coupled receptor
  • retinal outer segment membrane protein 1
  • retinaldehyde binding protein 1
    • cellular retinaldehyde-binding protein
  • retinitis pigmentosa GTPase regulator
    • retinitis pigmentosa gtpase regulator
  • retinol binding protein 3
    • interstitial retinol-binding protein
    • retinol binding protein 3, interstitial
    • retinol-binding protein 3, interstitial
    • retinol-binding protein, interstitial
  • retinol binding protein 4
    • 0
  • retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
    • ARSDR1
    • MDT1
    • SDR7C1
  • retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
    • retinol dehydrogenase 12 (all-trans and 9-cis)
  • retinol dehydrogenase 5
    • retinol dehydrogenase 5 (11-cis and 9-cis)
    • retinol dehydrogenase 5 (11-cis/9-cis)
    • retinol dehydrogenase, 11-cis
  • retinoschisin 1
    • retinoschisin
    • retinoschisis (x-linked, juvenile) 1
    • retinoschisis 1 gene, included
    • retinoschisis 1, x-linked, juvenile
  • rhodopsin
    • opsin 2
    • retinitis pigmentosa 4, included; rp4, included
    • retinitis pigmentosa, rhodopsin-related, included
  • RP1 like 1
    • retinitis pigmentosa 1-like 1
    • RP1-like protein 1
  • RP1, axonemal microtubule associated
    • oxygen-regulated photoreceptor protein 1
    • retinitis pigmentosa 1 (autosomal dominant)
    • RP1 gene
  • RP2, ARL3 GTPase activating protein
    • retinitis pigmentosa 2 (X-linked recessive)
    • RP2 gene
  • RP9, pre-mRNA splicing factor
    • PIM1-associated protein, mouse, homolog of
    • retinitis pigmentosa 9 (autosomal dominant)
    • RP9 gene
  • RPE65, retinoid isomerohydrolase
    • retinal pigment epithelium-specific protein 65kDa
  • RPGR interacting protein 1
    • retinitis pigmentosa GTPase regulator interacting protein 1
  • RPGRIP1-like
    • nephrocystin 8
  • S-antigen visual arrestin
    • arrestin
    • rod arrestin
    • S-antigen
    • S-antigen; retina and pineal gland (arrestin)
    • S-arrestin
  • semaphorin 4A
    • sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
    • semaphorin B
  • serologically defined colon cancer antigen 8
  • small nuclear ribonucleoprotein U5, subunit 200
    • activating signal cointegrator 1 complex subunit 3-like 1
    • BRR2, yeast, homolog of
    • retinitis pigmentosa 33 (autosomal dominant)
    • small nuclear ribonucleoprotein 200kDa (U5)
    • small nuclear ribonucleoprotein, 200kDa
    • U5 snRNP-specific protein, 200kDa
  • solute carrier family 24 member 1
    • CSNB1D
    • HsT17412
    • KIAA0702
    • NCKX
    • NCKX1
    • RODX
  • solute carrier family 33 member 1
    • acetyl-coA transporter
    • acetyl-Coenzyme A transporter
    • solute carrier family 33 (acetyl-CoA transporter) member 1
    • spastic paraplegia 42 (autosomal dominant)
  • solute carrier family 38 member 8
    • 0
  • solute carrier family 7 member 14
    • KIAA1613
    • PPP1R142
  • spermatogenesis associated 7
    • leber congenital amaurosis 3
  • TEA domain transcription factor 1
    • atrophia areata, peripapillary chorioretinal degeneration
    • tea domain family member 1
    • TEA domain family member 1 (SV40 transcriptional enhancer factor)
    • transcription factor 13
    • transcriptional enhancer factor 1
  • tectonic family member 1
    • tectonic
    • tectonic 1
  • tectonic family member 2
    • chromosome 12 open reading frame 38
    • tectonic 2
  • tectonic family member 3
  • tetraspanin 12
    • transmembrane 4 superfamily member 12
  • tetratricopeptide repeat domain 8
    • BBS8 gene
  • three prime repair exonuclease 1
    • aicardi gourieres syndrome 1
  • TIMP metallopeptidase inhibitor 3
    • tissue inhibitor of metalloproteinase 3
    • tissue inhibitor of metalloproteinase 3 (sorsby fundus dystrophy, pseudoinflammatory)
  • TOP1 binding arginine/serine-rich protein
    • retinitis pigmentosa 31 (autosomal dominant)
    • topoisomerase I binding, arginine/serine-rich
    • topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
  • transient receptor potential cation channel, subfamily M, member 1
    • melastatin 1
  • transmembrane protein 138
  • transmembrane protein 216
    • cerebello-oculo-renal syndrome 2
    • Meckel syndrome, type 2
  • transmembrane protein 231
  • transmembrane protein 237
    • ALS2 chromosome region gene 4
    • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
  • transmembrane protein 67
  • tripartite motif containing 32
    • BBS11 gene
    • limb girdle muscular dystrophy 2H (autosomal recessive)
    • TAT-interacting protein, 72-kDa
    • tripartite motif-containing 32
  • tubby bipartite transcription factor
    • rd5
  • tubby like protein 1
  • tubulin gamma complex associated protein 4
    • 76P
    • FLJ14797
  • tubulin gamma complex associated protein 6
    • DJ402G11.6
    • GCP6
    • KIAA1669
  • tubulin tyrosine ligase like 5
    • 0
  • unc-119 lipid binding chaperone
    • human retinal gene 4
    • unc-119 homolog (C. elegans)
    • unc119 (C.elegans) homolog
    • UNC119, C. elegans, homolog of
  • USH1 protein network component harmonin
    • deafness, autosomal recessive 18
    • harmonin
    • PDZ domain-containing protein, 73-kDa
    • Usher syndrome 1C (autosomal recessive, severe)
  • USH1 protein network component sans
    • scaffold protein containing ankyrin repeats and SAM domain
    • USH1G gene
    • Usher syndrome 1G (autosomal recessive)
  • usherin
    • USH2A gene
    • Usher syndrome 2A (autosomal recessive, mild)
  • vacuolar protein sorting 13 homolog B
    • vacuolar protein sorting 13 homolog B (yeast)
  • versican
    • chondroitin sulfate proteoglycan 2
    • chondroitin sulfate proteoglycan core protein, cartilage
    • versican proteoglycan
  • WD repeat containing planar cell polarity effector
  • WD repeat domain 19
  • whirlin
    • CASK-interacting protein, 98-kDa
    • deafness, autosomal recessive 31
  • wolframin ER transmembrane glycoprotein
    • wfs1 gene
    • Wolfram syndrome 1 (wolframin)
    • wolframin
  • zinc finger protein 423
  • zinc finger protein 513
2017

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