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Gene dossier Disorders Genes
Renal Disorders 220 Gene Exome panel

London South East RGC GSTT - 2015

  • 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 1
    • 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 heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • myosin IE
    • myosin IC
  • 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
Renal Disorders 220 Gene Exome Panel List of Disorders and Genes

London South East RGC GSTT - 2015

  • 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 1
    • 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 heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • myosin IE
    • myosin IC
  • 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
Renal Tubular Acidosis, Distal, Autosomal Recessive

Cambridge RGC - 2010

  • 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
Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness

Cambridge RGC - 2010

  • 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
Renal Tubulopathy 37 Gene Panel (consisting of 9 tests)

London North East RGC GOSH - 2016

  • Dent Disease 1
    • Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
    • Nephrolithiasis 2
    • Nephrolithiasis, X-Linked Recessive, Type 2
  • Dent Disease 2
  • 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
  • OCRL, inositol polyphosphate-5-phosphatase
    • Lowe oculocerebrorenal syndrome
    • Lowe syndrome
    • ocrl gene
    • oculocerebrorenal syndrome of Lowe
    • phosphatidylinositol 4,5-bisphosphate 5-phosphatase, deficiency of
Renal Tubulopathy 37 Gene Panel (consisting of 9 tests)

London North East RGC GOSH - 2016

  • Hyperparathyroidism, Neonatal Severe
    • Hyperparathyroidism, Neonatal Severe Primary
    • NHPT
    • NSPH
  • 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
  • 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)
  • calcium sensing receptor
    • calcium-sensing receptor
    • hypocalciuric hypercalcemia 1
    • parathyroid ca(2+)-sensing receptor 1
  • G protein subunit alpha 11
    • FBH
    • FBH2
    • FHH2
    • guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
Renal Tubulopathy 37 Gene Panel (consisting of 9 tests)

London North East RGC GOSH - 2016

  • Bartter Syndrome, Type 3
    • Bartter Syndrome, Classic
    • Bartter Syndrome, Type 3, With Hypocalciuria, Included
  • Gitelman Syndrome
    • Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
    • Potassium And Magnesium Depletion
  • Liddle Syndrome
    • Pseudoaldosteronism
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame Syndrome
  • barttin CLCNK type accessory beta subunit
  • chloride voltage-gated channel Kb
    • chloride channel KB
  • potassium voltage-gated channel subfamily J member 1
  • potassium voltage-gated channel subfamily J member 10
    • potassium inwardly-rectifying channel, subfamily J, member 10
  • 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 1
  • solute carrier family 12 member 3
    • solute carrier family 12 (sodium/chloride transporters), member 3
Renal Tubulopathy 37 Gene Panel (consisting of 9 tests)

London North East RGC GOSH - 2016

  • Bartter Syndrome, Type 3
    • Bartter Syndrome, Classic
    • Bartter Syndrome, Type 3, With Hypocalciuria, Included
  • Episodic Ataxia, Type 1
    • Ataxia, Episodic, With Myokymia
    • Continuous Muscle Fiber Activity, Hereditary, Included
    • Episodic Ataxia With Myokymia
    • Isaacs-Mertens Syndrome, Included
    • Myokymia With Periodic Ataxia
    • Myokymia, Included
    • Paroxysmal Ataxia With Neuromyotonia, Hereditary
  • Gitelman Syndrome
    • Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
    • Potassium And Magnesium Depletion
  • Hypomagnesemia 1, Intestinal
    • Homg|Hypomagnesemia With Secondary Hypocalcemia|Hypomagnesemic Tetany|Hypomagnesemia, Intestinal, With Secondary Hypocalcemia
  • 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
  • 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
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame Syndrome
  • chloride voltage-gated channel Kb
    • chloride channel KB
  • claudin 16
  • claudin 19
  • epidermal growth factor
  • FXYD domain containing ion transport regulator 2
  • 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
  • potassium voltage-gated channel subfamily A member 1
    • kv1.1
    • mk1, mouse, homolog of
    • potassium channel, voltage-gated, shaker-related subfamily, member 1
    • potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
  • potassium voltage-gated channel subfamily J member 10
    • potassium inwardly-rectifying channel, subfamily J, member 10
  • solute carrier family 12 member 3
    • solute carrier family 12 (sodium/chloride transporters), member 3
  • transient receptor potential cation channel, subfamily M, member 6
    • CHAK2
    • FLJ22628
Renal Tubulopathy 37 Gene Panel (consisting of 9 tests)

London North East RGC GOSH - 2016

  • Fanconi Renotubular Syndrome 2
  • Hypophosphatemic Rickets With Hypercalciuria, Hereditary
    • Hypercalciuric Rickets
  • Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
  • Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
  • SLC9A3 regulator 1
  • solute carrier family 34 member 1
  • solute carrier family 34 member 3
    • solute carrier family 34 (sodium phosphate) member 3
Renal Tubulopathy 37 Gene Panel (consisting of 9 tests)

London North East RGC GOSH - 2016

  • Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
  • 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
  • Medullary Cystic Kidney Disease 2
    • Medullary Cystic Kidney Disease 2, Autosomal Dominant
  • Renal Tubular Dysgenesis
  • renin
  • uromodulin
    • tamm-horsfall glycoprotein
    • uromodulin (uromucoid, tamm-horsfall glycoprotein)

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