GeneAssociated phenotypesInheritanceClinVarHGMD
CD151Raph blood group, Nephropathy with pretibial epidermolysis bullosa and deafnessAR13
COL4A3Alport syndrome, Hematuria, benign familialAD/AR123264
COL4A4Alport syndromeAD/AR110232
COL4A5Alport syndromeXL704992
COL4A6Deafness, with cochlear malformationXL115
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
GeneAssociated phenotypesInheritanceClinVarHGMD
EYA1Otofaciocervical syndrome, Branchiootic syndrome, Branchiootorenal syndromeAD56218
SIX1Deafness, Branchiootic syndrome, Branchiootorenal syndromeAD1119
SIX5Branchiootorenal syndromeAD310
TFAP2ABranchiooculofacial sydromeAD2342
GeneAssociated phenotypesInheritanceClinVarHGMD
AQP2Diabetes insipidus, nephrogenicAD/AR2664
AVPDiabetes insipidus, neurohypophysealAD/AR2183
AVPR2Diabetes insipidus, nephrogenicXL44284
GeneAssociated phenotypesInheritanceClinVarHGMD
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familialAR30183
C3Hemolytic uremic syndrome, atypical, Complement component 3 deficiency, Macular degeneration, age-relatedAD/AR687
CD46*Hemolytic uremic syndrome, atypicalAD/AR581
CFBComplement factor B deficiency, Hemolytic uremic syndrome, atypicalAD/AR226
CFH*Hemolytic uremic syndrome, atypical, Complement factor H deficiency, Basal laminar drusenAD/AR18305
CFHR5Atypical hemolytic-uremic syndrome with anti-factor H antibodies, C3 glomerulonephritisAD/AR432
CFIHemolytic uremic syndrome, atypical, Complement factor I deficiencyAD/AR10143
DGKENephrotic syndromeAR1738
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
GeneAssociated phenotypesInheritanceClinVarHGMD
BSNDSensorineural deafness with mild renal dysfunction, Bartter syndromeAR1020
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CLCNKB*Bartter syndromeAR/Digenic19119
CLDN16Hypomagnesemia, renalAR2162
CLDN19Hypomagnesemia, renalAR720
CNNM2Hypomagnesemia, renal, Hypomagnesemia, seizures, and mental retardationAR56
CNNM4Jalili syndromeAR1124
EGFHypomagnesemia, renalAR14
FAM111AKenny-Caffey syndrome, type 2AD59
FXYD2Hypomagnesemia, renalAD11
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndromeAD35234
KCNA1Episodic ataxia/myokymia syndromeAD2445
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1329
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
NIPA2HypomagnesemiaAD/AR14
PCBD1Hyperphenylalaninemia, BH4-deficientAR611
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisAR65
SLC12A3Gitelman syndromeAR49489
TRPM6Hypomagnesemia, intestinalAR1561
GeneAssociated phenotypesInheritanceClinVarHGMD
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
CLCN5Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent diseaseXL48272
CYP27B1Vitamin D-dependent ricketsAR2373
CYP2R1Vitamin D hydroxylation deficient rickets, type 1BAR26
DMP1Hypophosphatemic ricketsAR510
ENPP1Arterial calcification, Hypophosphatemic ricketsAD/AR2272
FAHTyrosinemiaAR53102
FGF23Tumoral calcinosis, hyperphosphatemic, Hypophosphatemic ricketsAD/AR1017
KLTumoral calcinosis, hyperphosphatemicAR110
PHEXHypophosphatemic ricketsXL263437
SLC34A1Nephrolithiasis/osteoporosis, hypophosphatemic, Fanconi renotubular syndrome, Hypercalcemia, infantile 2AD/AR2229
SLC34A3Hypophosphatemic rickets with hypercalciuriaAR2238
VDRVitamin D-dependent ricketsAD/AR1766
GeneAssociated phenotypesInheritanceClinVarHGMD
AHI1Joubert syndromeAR6293
ARL13BJoubert syndromeAR1110
ARMC9Joubert syndrome 30AR1211
B9D1Meckel syndromeAR710
B9D2Meckel syndromeAR84
C21ORF2Retinal dystrophy with or without macular staphyloma (RDMS), Spondylometaphyseal dysplasia, axial (SMDAX)AR1322
C5ORF42Orofaciodigital syndrome, Joubert syndromeAR97103
CC2D2A#COACH syndrome, Joubert syndrome, Meckel syndromeAR7691
CEP104Joubert syndromeAR75
CEP120Short-rib thoracic dysplasia 13 with or without polydactylyAR99
CEP164NephronophthisisAR119
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
CEP41Joubert syndromeAR/Digenic711
CSPP1Jeune asphyxiating thoracic dystrophy, Joubert syndromeAR3227
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)AR2550
KIAA0556Joubert syndrome 26AR22
KIAA0586#Short rib thoracic dysplasia with polydactyly, Joubert syndromeAR2931
KIAA0753Orofaciodigital syndrome XVAR67
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic2444
MKS1Bardet-Biedl syndrome, Meckel syndromeAR5052
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR1976
NPHP3Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndromeAR3875
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
PDE6DJoubert syndrome 22AR31
RPGRIP1L#COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifierAR3949
TCTN1#Joubert syndromeAR66
TCTN2Joubert syndrome, Meckel syndromeAR2015
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR912
TMEM107Joubert syndromeAR103
TMEM138Joubert syndromeAR68
TMEM216Joubert syndrome, Meckel syndromeAR178
TMEM231Joubert syndrome, Meckel syndromeAR1219
TMEM237Joubert syndromeAR711
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR87170
TTC21BShort-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2363
ZNF423Nephronophthisis, Joubert syndromeAD/AR107
GeneAssociated phenotypesInheritanceClinVarHGMD
SCNN1BLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1947
SCNN1GLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR820
GeneAssociated phenotypesInheritanceClinVarHGMD
B9D1Meckel syndromeAR710
B9D2Meckel syndromeAR84
CC2D2A#COACH syndrome, Joubert syndrome, Meckel syndromeAR7691
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
KIF14Meckel syndrome 12AR916
MKS1Bardet-Biedl syndrome, Meckel syndromeAR5052
NPHP3Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndromeAR3875
RPGRIP1L#COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifierAR3949
TCTN2Joubert syndrome, Meckel syndromeAR2015
TMEM107Joubert syndromeAR103
TMEM216Joubert syndrome, Meckel syndromeAR178
TMEM231Joubert syndrome, Meckel syndromeAR1219
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR87170
GeneAssociated phenotypesInheritanceClinVarHGMD
ADCY10Absorptive hypercalciuriaAD6
AGXTHyperoxaluriaAR190205
ALPLOdontohypophosphatasia, Hypophosphatasia perinatal lethal, infantile, juvenile and adult formsAD/AR78291
APRTAdenine phosphoribosyltransferase deficiencyAR1147
ATP6V0A4Renal tubular acidosis, distalAR1684
ATP6V1B1Renal tubular acidosis with deafnessAR1556
CA2Osteopetrosis, with renal tubular acidosisAR931
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR104396
CLCN5Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Hypophosphatemic rickets,, Nephrolithiasis, I, Dent diseaseXL48272
CLDN16Hypomagnesemia, renalAR2162
CLDN19Hypomagnesemia, renalAR720
CYP24A1Hypercalcemia, infantile 1AR840
FAM20AAmelogenesis imperfecta (Enamel-renal syndrome)AR1941
GNA11Hypocalcemia, Hypocalciuric hypercalcemiaAD1111
GPHNHyperekplexia, Molybdenum cofactor deficiencyAD/AR3520
GRHPRHyperoxaluriaAR6040
HNF4ACongenital hyperinsulinism, diazoxide-responsive, Maturity onset diabetes of the young, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngAD32147
HOGA1HyperoxaluriaAD/AR3733
HPRT1Lesch-Nyhan syndrome, Kelley-Seegmiller syndromeXL72427
KCNJ1Bartter syndrome, antenatalAR1166
MOCOSXanthinuria, type IIAR35
MOCS1*Molybdenum cofactor deficiencyAR735
OCRLLowe syndrome, Dent diseaseXL47264
SLC12A1Bartter syndrome, antenatalAR1881
SLC22A12Hypouricemia, renal 1AR840
SLC26A1Nephrolithiasis, calcium oxalateAR185
SLC2A9Hypouricemia, renal, 2AD/AR920
SLC34A1Nephrolithiasis/osteoporosis, hypophosphatemic, Fanconi renotubular syndrome, Hypercalcemia, infantile 2AD/AR2229
SLC34A3Hypophosphatemic rickets with hypercalciuriaAR2238
SLC3A1CystinuriaAR26241
SLC4A1Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 MemphisAD/AR/BG38122
SLC7A9CystinuriaAD/AR24159
SLC9A3R1Nephrolithiasis/osteoporosis, hypophosphatemic, 2AD7
VDRVitamin D-dependent ricketsAD/AR1766
XDHXanthinuria, type IAR1021
GeneAssociated phenotypesInheritanceClinVarHGMD
ANKS6NephronophthisisAR912
CEP164NephronophthisisAR119
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
CEP83NephronophthisisAR1010
DCDC2Deafness, Nephronophthisis, Sclerosing cholangitis, neonatalAR139
GLIS2NephronophthisisAR33
IFT172Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2225
INVSNephronophthisisAR1634
IQCB1Senior-Loken syndromeAR2441
MAPKBP1Nephronophthisis 20AR67
NEK8NephronophthisisAR1618
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR1976
NPHP3Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndromeAR3875
NPHP4Nephronophthisis, Senior-Loken syndromeAR20113
RPGRIP1L#COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifierAR3949
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndromeAR1418
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR87170
TTC21BShort-rib thoracic dysplasia, Nephronophthisis, Asphyxiating thoracic dysplasia (ATD; Jeune)AR2363
WDR19Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Asphyxiating thoracic dysplasia (ATD; Jeune)AR3343
ZNF423Nephronophthisis, Joubert syndromeAD/AR107
GeneAssociated phenotypesInheritanceClinVarHGMD
AGXTHyperoxaluriaAR190205
GRHPRHyperoxaluriaAR6040
HOGA1HyperoxaluriaAD/AR3733
GeneAssociated phenotypesInheritanceClinVarHGMD
CUL3PseudohypoaldosteronismAD2429
HSD11B2Cortisol 11-beta-ketoreductase deficiencyAR1343
KCNJ5Long QT syndrome, Hyperaldosteronism, familialAD715
KLHL3PseudohypoaldosteronismAD/AR3338
NR3C2Hypertension, early-onset, with exacerbation in pregnancy, PseudohypoaldosteronismAD2870
SCNN1APseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1044
SCNN1BLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR1947
SCNN1GLiddle syndrome, Pseudohypoaldosteronism, Bronchiectasis with or without elevated sweat chlorideAD/AR820
WNK1Neuropathy, hereditary sensory and autonomic, PseudohypoaldosteronismAD/AR149
WNK4PseudohypoaldosteronismAD815
GeneAssociated phenotypesInheritanceClinVarHGMD
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
INVSNephronophthisisAR1634
IQCB1Senior-Loken syndromeAR2441
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR1976
NPHP3Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndromeAR3875
NPHP4Nephronophthisis, Senior-Loken syndromeAR20113
SCLT1#Senior-Loken syndrome, Retinal dystrophy3
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndromeAR1418
TRAF3IP1Senior-Loken syndrome 9AR1115
GeneAssociated phenotypesInheritanceClinVarHGMD
ATP6V0A4Renal tubular acidosis, distalAR1684
ATP6V1B1Renal tubular acidosis with deafnessAR1556
CA2Osteopetrosis, with renal tubular acidosisAR931
SLC4A1Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 MemphisAD/AR/BG38122
SLC4A4Renal tubular acidosis, proximalAD/AR621