Testing Criteria

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Testing criteria Disorders Genes Date
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
  • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
    • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies
    • Pulmonary Hypertension, Familial Persistent, Of The Newborn
  • forkhead box F
    • forkhead, drosophila, homolog-like 5
    • forkhead-related activator 1
2012
Alzheimer Disease
  • Alzheimer Disease
    • Alzheimer Disease, Familial
    • Alzheimer Disease, Familial, 1, Included
    • Presenile And Senile Dementia
  • amyloid beta precursor protein
    • alzheimer disease 1, included
    • amyloid beta (A4) precursor protein
    • amyloid of aging and alzheimer disease
    • cerebral vascular amyloid peptide
    • protease nexin II, included
2011
Amegakaryocytic Thrombocytopenia, Congenital
  • Amegakaryocytic Thrombocytopenia, Congenital
  • MPL proto-oncogene, thrombopoietin receptor
    • myeloproliferative leukemia virus oncogene
    • myeloproliferative leukemia virus, mouse, homolog of
    • thrombopoietin receptor
2011
Amelogenesis Imperfecta Disorders 21 Gene Panel
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA1
    • Amelogenesis Imperfecta, Pigmented Hypomaturation Type 1
    • Amelogenesis Imperfecta, Type IIA1
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA2
    • Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2
    • Amelogenesis Imperfecta, Type IIA2
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA3
    • Amelogenesis Imperfecta, Type IIA3
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA4
    • Amelogenesis Imperfecta, Type IIA4
  • Amelogenesis Imperfecta, Type IA
    • Amelogenesis Imperfecta, Hypoplastic Type IA
  • Amelogenesis Imperfecta, Type IC
    • Amelogenesis Imperfecta, Hypoplastic, With Or Without Openbite Malocclusion, Autosomal Recessive
    • Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive
  • Amelogenesis Imperfecta, Type IE
    • Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth
    • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
    • Amelogenesis Imperfecta, X-Linked 1
    • Enamel Hypoplasia, X-Linked
  • Amelogenesis Imperfecta, Type IG
    • Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome; AIGFS
    • Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis
    • Enamel-Renal Syndrome
    • Enamel-Renal-Gingival Syndrome
  • Amelogenesis Imperfecta, Type III
    • Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant
    • Amelogenesis Imperfecta, Hypomineralization Type
  • Amelogenesis Imperfecta, Type IV
  • Heimler Syndrome 1
    • Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
    • Peroxisome Biogenesis Disorder 1C
  • Heimler Syndrome 2
    • Peroxisome Biogenesis Disorder 4C
  • Immunodeficiency 10
    • Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2|Stim1 Deficiency
  • Immunodeficiency 9
    • Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1
  • Raine Syndrome
    • Osteosclerotic Bone Dysplasia, Lethal
  • amelogenin, X-linked
    • amelogenin
    • amelogenin (amelogenesis imperfecta 1, X-linked)
  • collagen, type XVII, alpha 1 chain
    • collagen, type XVII, alpha 1
  • distal-less homeobox 3
  • enamelin
    • amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
  • FAM20A, golgi associated secretory pathway pseudokinase
    • DKFZp434F2322
    • family with sequence similarity 20, member A
  • FAM20C, golgi associated secretory pathway kinase
    • dentin matrix protein 4
    • family with sequence similarity 20, member C
  • family with sequence similarity 83, member H
    • FLJ46072
  • G protein-coupled receptor 68
    • 0
  • integrin subunit beta 4
    • integrin, beta 4
  • kallikrein related peptidase 4
    • kallikrein 4 (prostase, enamel matrix, prostate)
    • PRSS17
  • laminin subunit alpha 3
    • BM600-150kDa
    • epiligrin, k
    • kalinin-165kDa
    • laminin, alpha 3
    • laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)
    • nicein-150kDa
  • laminin subunit beta 3
    • BM600-125kDa
    • kalinin-140kDa
    • laminin, beta 3
    • laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))
    • nicein-125kDa
  • laminin subunit gamma 2
    • BM600-100kDa, ,
    • kalinin-105kDa
    • laminin, gamma 2
    • laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))
    • nicein-100kDa
  • latent transforming growth factor beta binding protein 3
  • matrix metallopeptidase 20
    • matrix metalloproteinase 20 (enamelysin)
  • odontogenesis associated phosphoprotein
    • chromosome 4 open reading frame 26
    • FLJ23657
  • ORAI calcium release-activated calcium modulator 1
    • transmembrane protein 142A
  • peroxisomal biogenesis factor 1
    • peroxin 1
  • peroxisomal biogenesis factor 6
    • peroxin 6
    • peroxisomal assembly factor 2
    • peroxisomal-type ATPase 1
  • stromal interaction molecule 1
  • WD repeat domain 72
    • FLJ38736
2016
Amyotrophic Lateral Sclerosis / Frontotemporal Dementia 22 Gene Panel 2014
Amyotrophic Lateral Sclerosis With Or Without Frontotemporal Dementia 42 Gene Panel
  • Amyotrophic Lateral Sclerosis 1
    • Amyotrophic Lateral Sclerosis
  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
    • Frontotemporal Dementia With Tdp43 Inclusions, Tardbp-Related, Included
    • Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Tardbp-Related, Included
    • Ftld-Tdp, Tardbp-Related, Included
  • Amyotrophic Lateral Sclerosis 11
  • Amyotrophic Lateral Sclerosis 12
  • Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis 16, Juvenile
  • Amyotrophic Lateral Sclerosis 17
    • Amyotrophic Lateral Sclerosis 17
  • Amyotrophic Lateral Sclerosis 18
  • Amyotrophic Lateral Sclerosis 19
    • 0
  • Amyotrophic Lateral Sclerosis 2, Juvenile
    • ALS, Juvenile
  • Amyotrophic Lateral Sclerosis 20
    • 0
  • Amyotrophic Lateral Sclerosis 21
    • Myopathy, Distal, 2
    • Vpcal Cord And Pharyngeal Dysfunction With Distal Myopathy
  • Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemoral Dementia
    • 0
  • Amyotrophic Lateral Sclerosis 4, Juvenile
    • Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
  • Amyotrophic Lateral Sclerosis 5, Juvenile
    • 0
  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis 8
  • Amyotrophic Lateral Sclerosis 9
  • Cerebrotendinous Xanthomatosis
    • Cerebral Cholesterinosis
  • Frontotemporal Dementia
    • Dementia, Frontotemporal, With Parkinsonism
    • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
    • Frontotemporal Dementia With Parkinsonism
    • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
    • Frontotemporal Lobar Degeneration
    • Frontotemporal Lobe Dementia
    • Ftdp17
    • Multiple System Tauopathy With Presenile Dementia
    • Pick Complex, Included
    • Wilhelmsen-Lynch Disease
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
    • 0
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
    • 0
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
    • 0
  • Frontotemporal Lobar Degeneration With TDP43 Inclusions, GRN-Related
    • Dementia, Hereditary Dysphasic Disinhibition
    • Frontotemporal Dementia With TDP43 Inclusions, Grn-Related
    • Frontotemporal Dementia, Ubiquitin-Positive
    • Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions
    • FTLD-TDP, GRN-Related
  • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
    • Lower Motor Neuron Degeneration With Paget-Like Bone Disease
    • Multisystem Proteinopathy 1
    • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
    • Pagetoid Amyotrophic Lateral Sclerosis
    • Pagetoid Neuroskeletal Syndrome
  • Neuronopathy, Distal Hereditary Motor, Type VIIB
    • Lower Motor Neuron Disease, Dynactin Type
    • Neuropathy, Distal Hereditary Motor, Type VIIB
    • Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type VIIB
  • Pontocerebellar Hypoplasia, Type 1a
    • PCH1
    • Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
    • Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
  • Primary Lateral Sclerosis, Juvenile
    • PLS, Juvenile
  • Spastic Paraplegia 20, Autosomal Recessive
    • Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting
    • Spastic Paraplegia, Autosomal Recessive, Troyer Type
    • Troyer Syndrome
  • Spastic Paraplegia 46, Autosomal Recessive
  • Spinocerebellar Ataxia 2
    • Olivopontocerebellar Atrophy 2
    • Olivopontocerebellar Atrophy, Holguin Type
    • Spinocerebellar Ataxia, Cuban Type
    • Spinocerebellar Atrophy II
  • ALS2, alsin Rho guanine nucleotide exchange factor
    • amyotrophic lateral sclerosis 2 (juvenile)
    • amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6
  • angiogenin
    • angiogenin, ribonuclease, RNase A family, 5
  • annexin A11
    • 0
  • ataxin 2
  • charged multivesicular body protein 2B
    • charged multivesicular body protein 2B
    • chromatin modifying protein 2B
    • chromatin-modifying protein 2B
    • vacuolar protein sorting 2, yeast, homolog of, B
  • coiled-coil-helix-coiled-coil-helix domain containing 10
    • C22orf16
    • chromosome 22 open reading frame 16
  • cytochrome P450, family 27, subfamily A, member 1
    • cytochrome P450, family 27, subfamily A, polypeptide 1
    • cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
    • cytochrome P450, subfamily XXVIIA, polypeptide 1
    • sterol 27-hydroxylase
  • D-amino acid oxidase
    • 0
  • dynactin subunit 1
    • dynactin 1
    • dynactin 1 (p150, Glued (Drosophila) homolog)
    • p150(glued), drosophila, homolog of
  • erb-b2 receptor tyrosine kinase 3
    • HER3
  • EWS RNA binding protein 1
    • Ewing sarcoma breakpoint region 1
  • FIG4 phosphoinositide 5-phosphatase
    • FIG4 homolog (S. cerevisiae)
    • FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
    • KIAA0274
  • FUS RNA binding protein
    • fused in sarcoma
    • heterogeneous nuclear ribonucleoprotein p2
    • translocated in liposarcoma
  • glucosylceramidase beta 2
    • beta-glucosidase, bile acid
    • bile acid beta-glucosidase
    • glucosidase, beta (bile acid) 2
    • glucosidase, beta, acid 2
    • glucosylceramidase, nonlysosomal
    • spastic paraplegia 46 (autosomal recessive)
  • granulin precursor
  • heterogeneous nuclear ribonucleoprotein A1
    • ALS20
    • hnRNP-A1
    • hnRNPA1
  • heterogeneous nuclear ribonucleoprotein A2/B1
    • 0
  • matrin 3
    • KIAA0723
    • MGC9105
    • myopathy, distal 2
  • microtubule associated protein TAU
    • microtubule-associated protein TAU
    • tauopathy and respiratory failure, included
  • neurofilament, heavy
    • neurofilament, heavy polypeptide
    • neurofilament, heavy polypeptide 200kDa
  • NIMA related kinase 1
  • optineurin
    • glaucoma 1, open angle, E (adult-onset)
  • peripherin
  • profilin 1
  • Rho guanine nucleotide exchange factor 28
    • Rho guanine nucleotide exchange factor (GEF) 28
  • senataxin
    • amyotrophic lateral sclerosis 4
    • spinocerebellar ataxia, recessive, non-Friedreich type 1
  • sequestosome 1
    • OSIL
    • oxidative stress induced like
    • Paget disease of bone 3
  • sigma non-opioid intracellular receptor 1
    • opioid receptor, sigma 1
  • spastic paraplegia 20 (Troyer syndrome)
    • spartin
    • spastic paraplegia 20, spartin (troyer syndrome)
    • spg20 gene
  • spastin
    • chromosome 1 open reading frame 2
    • spastic paraplegia 4 (autosomal dominant; spastin)
    • spastin
    • spg4 gene
  • SPG11, spatacsin vesicle trafficking associated
    • spastic paraplegia 11 (autosomal recessive)
    • spatacsin
    • SPG11 gene
  • SS18L1, nBAF chromatin remodeling complex subunit
    • calcium-responsive transactivator
    • CREST
    • KIAA0693
    • synovial sarcoma translocation gene on chromosome 18-like 1
  • superoxide dismutase 1, soluble
    • amyotrophic lateral sclerosis 1 (adult)
    • indophenoloxidase a
    • sod, soluble
    • superoxide dismutase 1
    • superoxide dismutase, copper-zinc
    • superoxide dismutase, cystolic
    • superoxide dismutase, soluble
  • TANK binding kinase 1
    • TANK-binding kinase 1
  • TAR DNA binding protein
  • TATA-box binding protein associated factor 15
    • TAF15 RNA polymerase II
    • TATA box binding protein (TBP)-associated factor, 68kDa
    • TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)
  • tubulin alpha 4A
    • TUBA1
    • tubulin, alpha 1
    • tubulin, alpha 1 (testis specific)
  • ubiquilin 2
  • vaccinia related kinase 1
  • valosin containing protein
    • CDC48, yeast, homolog of
    • valosin-containing protein
  • VAMP associated protein B and C
    • VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VPS54, GARP complex subunit
    • protein phosphatase 1, regulatory subunit 164
    • vacuolar protein sorting 54 (yeast)
    • vacuolar protein sorting 54 homolog (S. cerevisiae)
2016
Amyotrophic Lateral Sclerosis, 6 and 10
  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
  • FUS RNA binding protein
    • fused in sarcoma
    • heterogeneous nuclear ribonucleoprotein p2
    • translocated in liposarcoma
2012
Amyotrophic Lateral Sclerosis, 6 and 10
  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
    • Frontotemporal Dementia With Tdp43 Inclusions, Tardbp-Related, Included
    • Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Tardbp-Related, Included
    • Ftld-Tdp, Tardbp-Related, Included
  • TAR DNA binding protein
2012
Anaemia Syndromes, Congenital, 33 Gene Panel
  • Anaemia, Congenital Dyserythropoietic, Type Ia
    • Anaemia, Congenital Dyserythropoietic, Type I
    • Anemia, Congenital Dyserythropoietic, Type I
    • Anemia, Congenital Dyserythropoietic, Type Ia
    • Dyserythropoietic Anaemia, Congenital, Type Ia
    • Dyserythropoietic Anemia, Congenital, Type Ia
  • Anaemia, Congenital Dyserythropoietic, Type II
    • Anemia, Congenital Dyserythropoietic, Type II
    • Dyserythropoietic Anaemia, Congenital, Type II
    • Dyserythropoietic Anaemia, Hempas Type
    • Dyserythropoietic Anemia, Congenital, Type II
    • Dyserythropoietic Anemia, Hempas Type
    • Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test
  • Anaemia, Congenital Dyserythropoietic, Type IV
    • Anemia, Congenital Dyserythropoietic, Type IV
    • CDA, Type IV
  • Anemia, Sideroblastic, 2, Pyridoxine-Refractory
    • Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
  • Anemia, Sideroblastic, X-Linked
    • Anaemia, Hereditary Sideroblastic
    • Anaemia, Hypochromic
    • Anaemia, Sideroblastic, X-Linked
    • Anemia, Hereditary Sideroblastic
    • Anemia, Hypochromic
    • Hereditary Iron-Loading Anaemia
    • Hereditary Iron-Loading Anemia
  • Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
  • Diamond-Blackfan Anaemia 1
    • AASE Syndrome
    • AASE-Smith Syndrome II
    • Anaemia, Congenital Erythroid Hypoplastic
    • Anaemia, Congenital Hypoplastic, Of Blackfan And Diamond
    • Anemia, Congenital Erythroid Hypoplastic
    • Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
    • Aregenerative Anaemia, Chronic Congenital
    • Blackfan-Diamond Syndrome
    • Diamond-Blackfan Anemia 1
    • Erythrogenesis Imperfecta
    • Red Cell Aplasia, Pure, Hereditary
  • Diamond-Blackfan Anaemia 10
    • Diamond-Blackfan Anemia 10
  • Diamond-Blackfan Anaemia 11
    • Diamond-Blackfan Anemia 11
  • Diamond-Blackfan Anaemia 12
    • Diamond-Blackfan Anemia 12
  • Diamond-Blackfan Anaemia 13
    • Diamond-Blackfan Anemia 13
  • Diamond-Blackfan Anaemia 3
    • Diamond-Blackfan Anaemia 3
  • Diamond-Blackfan Anaemia 4
    • Diamond-Blackfan Anemia 4
  • Diamond-Blackfan Anaemia 5
    • Diamond-Blackfan Anemia 5
  • Diamond-Blackfan Anaemia 6
    • AASE-Smith Syndrome II
    • Diamond-Blackfan Anemia 6
  • Diamond-Blackfan Anaemia 7
    • Diamond-Blackfan Anemia 7
  • Diamond-Blackfan Anaemia 8
    • Diamond-Blackfan Anemia 8
  • Diamond-Blackfan Anaemia 9
    • Diamond-Blackfan Anemia 9
  • 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, 2
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • Glucose-6-Phosphate Dehydrogenase Deficiency
    • Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency, Included
  • Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
  • Pyruvate Kinase Deficiency Of Red Cells
    • PK deficiency
    • Pyruvate Kinase Deficiency Of Erythrocyte
  • Shwachman-Diamond Syndrome
    • Lipomatosis Of Pancreas, Congenital
    • Pancreatic Insufficiency And Bone Marrow Dysfunction
    • Shwachman-Bodian Syndrome
  • Uridine 5-Prime Monophosphate Hydrolase Deficiency, Haemolytic Anaemia Due To
    • Haemolytic Anaemia Due To P5N Deficiency
    • Haemolytic Anaemia Due To UMPH1 Deficiency
    • Hemolytic Anemia Due To P5N Deficiency
    • Hemolytic Anemia Due To UMPH1 Deficiency
    • P5N Deficiency
    • Pyrimidine 5-Prime Nucleotidase Deficiency, Haemolytic Anaemia Due To
    • Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia Due To
    • UMPH1 Deficiency
    • Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
  • 5'-aminolevulinate synthase 2
    • 5-aminolevulinate synthase, erythroid-specific
    • ALAS, erythroid
    • aminolevulinate, delta-, synthase 2
    • aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
  • 5'-nucleotidase, cytosolic IIIA
    • 5'-nucleotidase, cytosolic III
    • 5-prime-nucleotidase, cytosolic IIIA
    • nucleotidase, 5-prime, cytosolic III
    • pyrimidine 5-prime-nucleotidase 1
    • uridine 5-prime monophosphate hydrolase 1
  • chromosome 15 open reading frame 41
  • codanin 1
    • congenital dyserythropoietic anemia, type I
    • discs lost, drosophila, homolog of
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • GATA binding protein 1
    • erythroid transcription factor 1
    • GATA -binding protein 1
    • GATA binding protein 1 (globin transcription factor 1)
    • GATA-binding protein 1 (globin transcription factor 1)
    • globin transcription factor 1
    • transcription factor GATA1
  • glucose-6-phosphate dehydrogenase
    • anaemia, nonspherocytic hemolytic, due to g6pd deficiency
    • anemia, nonspherocytic hemolytic, due to g6pd deficiency
  • kinesin family member 23
    • kinesin-like 5
    • kinesin-like 5 (mitotic kinesin-like protein 1)
    • mitotic kinesin-like 1
    • ZEN4, c. elegans, homolog of
  • Kruppel-like factor 1
    • erythroid Kruppel-like factor
    • Kruppel-like factor 1 (erythroid)
  • NHP2 ribonucleoprotein
    • NHP2 ribonucleoprotein homolog (yeast)
    • NHP2, s. cerevisiae, homolog of
    • nucleolar protein family A, member 2
    • nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)
  • 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)
  • pyruvate kinase, liver and RBC
    • pyruvate kinase 1
    • pyruvate kinase, liver type
    • pyruvate kinase, red cell type
  • ribosomal protein L11
  • ribosomal protein L19
  • ribosomal protein L26
  • ribosomal protein L27
  • ribosomal protein L35a
  • ribosomal protein L5
  • ribosomal protein L9
  • ribosomal protein S10
  • ribosomal protein S17
    • ribosomal protein S17-like
  • ribosomal protein S19
  • ribosomal protein S24
  • ribosomal protein S26
  • ribosomal protein S27
    • metallopanstimulin 1
    • ribosomal protein S27 (metallopanstimulin 1)
  • ribosomal protein S29
  • ribosomal protein S7
  • SBDS, ribosome maturation factor
    • SBDS ribosome assembly guanine nucleotide exchange factor
    • Shwachman-Bodian-Diamond syndrome
  • Sec23 homolog B, coat complex II component
    • congenital dyserythropoietic anemia, type II
    • Sec23 (S. cerevisiae) homolog B
    • Sec23 homolog B (S. cerevisiae)
  • solute carrier family 25 member 38
  • 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
2014
Angioedema, Hereditary, Type I
  • Angioedema, Hereditary, Type I
    • Angioedema, Hereditaryi
    • Angioneurotic Edema, Hereditary
    • C1 Esterase Inhibitor, Deficiency Of
  • serpin family G, member 1
    • angioedema, hereditary
    • complement component 1 inhibitor
    • plasma protease C1 inhibitor
    • serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
2010

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