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Download Gene List Combined Oxidative Phosphorylation RMND1 Donnai-Barrow Syndrome LRP2 Gitelman Syndrome SLC12A3 Hypomagnesemia Type 1-6 CLDN16 LMNA-Related Disorders LMNA Nephrolithiasis/Osteoporosis, SLC34A1 Polycystic Kidney Disease (PKD), PKD1 Renal Tubular Acidosis ATP6V0A4 Sotos Syndrome 1 NSD1 CLDN19 1 and 2, Autosomal Dominant PKD2 ATP6V1B1 Deciency, Type 11 Duane-Radial Ray Syndrome SALL4 Glomerulocystic Kidney Disease HNF1B Lowe Syndrome OCRL Hypophosphatemic 1 and 2 SLC9A3R1 Steroid-Resistant Nephrotic ALG13 CNNM2 CA2 Complement Component 5 C5 REN Nephronophthisis 1–4, 7, 9, 11–13, ANKS6 Polycystic Kidney Disease, PKHD1 Syndrome SYNPO Eagle-Barrett Syndrome CHRM3 CNNM2 LRP5-Related Disorders LRP5 FOXI1 Deciency UMOD 15, 16, 19 CEP164 Autosomal Recessive EGF SLC4A1 Steroid-Resistant Nephrotic ARHGAP24 Genetic Conditions and Genes Ectrodactyly, Ectodermal Dysplasia, TP63 Lymphedema-Distichiasis Syndrome FOXC2 DCDC2 Complement Factor H, I Deciency CFH Glomerulopathy with Fibronectin FN1 FXYD Polycystic Liver Disease (PLD), 1–3 ALG8 SLC4A4 Syndrome with Focal and Cleft Lip/Palate Syndrome 3 with Renal Disease and GLIS2 CFI Deposits 2 KCNA1 Diabetes Mellitus PRKCSH WDR72 Segmental Hyalinosis Encephalocraniocutaneous FGFR1 INVS Glucocorticoid Resistance, NR3C1 TRPM6 SEC63 Sucrase-Isomaltase Deciency SI Congenital Adrenal Hyperplasia CYP11B1 Lipomatosis Lysinuric Protein Intolerance SLC7A7 NEK8 Renal Tubular Disease NEDD4L 385 genes associated with monogenic due to 3-Beta-Hydroxysteroid HSD3B2 Generalized Hypoparathyroidism, GCM2 NPHP1 Primary Hyperoxaluria Type 1, 2, 3 AGXT Susceptibility to End-Stage Renal APOL1 Epilepsy, Progressive Myoclonic, 4 SCARB2 Mandibulfacial Dysostosis with EDNRA Renal Tubular Dysgenesis ACE Dehydrogenase Deciency and Glycogen Storage Disease, G6PC Familial Isolated NPHP3 GRHPR Disease with or without Renal Failure Alopecia AGT 11-Beta-Hydroxylase Deciency NPHP4 HOGA1 Type 1A, 1B/1C, 11 LDHA Hypoparathyroidism, Sensorineural GATA3 AGTR1 Susceptibility to Gout ABCG2 Epstein Syndrome MYH9 Maturity Onset Diabetes of the BLK disorders linked to kidney disease Congenital Adrenal Hypoplasia with NR0B1 SLC37A4 Deafness, and Renal Dysplasia SLC41A1 Prune Belly Syndrome CHRM3 REN Young (MODY), Type 2-4, 6-9, 11 CEL Susceptibility to Hypertension STK39 Hypogonadotropic Hypogonadism Fabry Disease GLA TMEM67 Golabi-Behmel Syndrome, Type 2 OFD1 Hypophosphatasia ALPL GCK Pseudohypoaldosteronism Type I, NR3C2 Renal-Hepatic-Pancreatic NEK8 TTC21B Systemic Lupus Erythematosus 16 DNASE1L3 Congenital Anomalies of the Kidney PBX1 Familial Cold-Induced Inammatory NLRP3 Autosomal Dominant Hypertension, Hajdu-Cheney Syndrome NOTCH2 Hypophosphatemic Rickets CLCN5 HNF1A WDR19 Dysplasia 2 and Urinary Tract Syndrome with or Syndrome, Type 1, 3 PLCG2 Early-Onset Thrombophilia due to THBD DMP1 KLF11 XPNPEP3 Rickets due to Defect in Vitamin D CYP2R1 without Hearing Loss, Abnormal Ears, Hand-Foot-Uterus Syndrome HOXA13 Thrombomodulin Defect Familial Dysautonomia, Hereditary ELP1 ENPP1 NEUROD1 Pseudohypoaldosteronism, CUL3 25-hydroxylation or Developmental Delay (CAKUTHED) Hartnup Disorder SLC6A19 Nephropathy due to CFHR5 CFHR5 Sensory and Autonomic Neuropathy FGF23 PAX4 Type 1, 1B, 2B, 2C, 2D, 2E KLHL3 Thrombotic Thrombocytopenic ADAMTS13 Deciency Robinow Syndrome ROR2 Congenital Disorder of Glycosylation, ALG1 Type 3 Hereditary Angiopathy with COL4A1 PHEX PDX1 SCNN1A Purpura, Familial WNT5A Type 1A, 1H, 1K, 1L ALG8 Nephropathy, Aneurysms and Nephropathy with Pretibial CD151 Condition Name Genes Condition Name Genes Condition Name Genes Familial Mediterranean Fever MEFV VDR Meckel Syndrome, Type 3,4,7 CEP290 SCNN1B Townes-Brocks Syndrome 1 SALL1 ALG9 Muscle Cramps (HANAC) Epidermolysis Bullosa and Deafness SCNN1G Rubinstein-Taybi Syndrome, Type 1 CREBBP Hypotrichosis-Lymphedema- SOX18 NPHP3 PMM2 Fanconi Anemia, Group A, B, C, FANCA Tuberous Sclerosis 1, 2 TSC1 Hereditary Renal Amyloidosis FGA TMEM67 Nephrotic Syndrome DLC1 WNK1 Scalp-Ear-Nipple Syndrome KCTD1 17-Alpha-Hydroxylase 17/20 CYP17A1 Autoinammation, PLCG2 Branchiooculofacial Syndrome TFAP2A D2, E, F, G, I, L, M, N, O, P FANCB Telangiectasia-Renal Defect TSC2 Congenital Hyperinsulinism KCNJ11 ITSN2 WNK4 -Lyase Deciency Antibody Deciency, and Syndrome Medullary Cystic Kidney Disease UMOD Schimke Immunoosseous Dysplasia SMARCAL1 Branchio-Oto-Renal Syndrome, SIX1 FANCC Hermansky-Pudlak Syndrome 1 HPS1 KANK1 Tubulointerstitial Kidney Disease, HNF1B Cornelia de Lange Syndrome SMC1A Pseudohypoparathyroidism Type 1B GNAS Immune Dysregulation Syndrome Type 1, 2 EYA1 FANCD2 Hypouricemia, Renal, Type 1, 2 SLC22A12 Megaloblastic Anemia 1 CUBN Seizures, Sensorineural Deafness, KCNJ10 5-Oxoprolinase Deciency OPLAH Hyperaldosteronism, Familial, CACNA1H TNS2 STX16 Autosomal Dominant REN Axenfeld-Rieger Syndrome, Type 3 FOXC1 SIX5 Corticosterone Methyloxidase CYP11B2 FANCE SLC2A9 AMN Ataxia, Mental Retardation, and UMOD Acroosteolysis, Dominant NOTCH2 Type 1, 2, 3, 4 CLCN2 Nephrotic Syndrome Type 2-7, 15, DGKE Deciency FANCF Pseudoxanthoma Elasticum ABCC6 SeSAME Syndrome Baraitser-Winter Syndrome, Type 1 ACTB Burn-McKeown Syndrome TXNL4A CYP11B1 IMAGE Syndrome CDKN1C Metaphyseal Chondrodysplasia, PTH1R Acro-Renal-Ocular Syndrome SALL4 FANCG Steroid sensitive, Congenital LAMB2 Arterial Calcication, Generalized, Tumoral Calcinosis, FGF23 Cranioectodermal Dysplasia, IFT122 CYP11B2 Murk Jansen Type Senior-Loken Syndrome, CEP290 Bardet-Biedl Syndromes, ARL6 C3 Glomerulopathy C3 FANCI Interstitial Lung Disease with ITGA3 MAGI2 of Infancy, 2 Hyperphosphatemic Adenine Phosphoribosyltransferase APRT Type 1, 3 IFT43 KCNJ5 Type 4, 5, 6, 7 INVS Type 1-12, 14-18, 21 BBIP1 CFHR5 FANCL Nephrotic Syndrome and Methylmalonic Acidemia, Type mut0 MUT NPHS1 Thyrotoxic periodic paralysis, KCNJ18 Deciency Pulmonary Hypertension, Familial BMPR2 IQCB1 WDR19 FANCM Hypercalcemia Infantile, CYP24A1 Epidermolysis Bullosa NPHS2 BBS1 CFI Methylmalonic Aciduria and MMACHC Primary with or without Hereditary susceptibility to, Type 2 Alagille Syndrome, Type 1, 2 JAG1 Type 1, 2 SLC34A1 PLCE1 NPHP1 BBS10 CFH Currarino Syndrome MNX1 PALB2 Interstitial Nephritis, Karyomegalic FAN1 Homocystinuria, Type cblC PLCG2 Hemorrhagic Telangiectasia NPHP3 Type 1 Diabetes FOXP3 NOTCH2 BBS12 DGKE RAD51C Hypercalciuria, Hypophosphatemic ADCY10 CYP11A1 Deciency Syndrome CYP11A1 IPEX Syndrome FOXP3 NPHP4 INS BBS2 SLX4 Mevalonic Aciduria MVK PTPRO Pulmonary Hypertension, CAV1 Alkaptonuria HGD Congenital Anomalies of the Kidney BMP4 Rickets SLC34A3 Cystinosis CTNS Isolated Renal Hypoplasia PAX2 WT1 Primary 2, 3, 4 KCNK3 SDCCAG8 Urofacial Syndrome 1 HPSE2 BBS4 Fanconi Renotubular GATM Microphthalmia, syndromic 6 BMP4 Alport Syndrome COL4A3 and Urinary Tract (CAKUT) BMP7 Hyperglycinuria SLC6A19 SMAD9 WDR19 BBS5 Cystinuria SLC3A1 Neurobromatosis, Type 1 NF1 VACTERL association with HOXD13 COL4A4 CHD1L Syndrome, Type 1, 2, 4 HNF4A SLC36A2 IVIC Syndrome SALL4 Mitochondrial Complex 3 Deciency BCS1L BBS7 SLC7A9 Pulmonary venoocclusive disease 1 BMPR2 SERKAL Syndrome WNT4 hydrocephalus COL4A5 CRKL SLC34A1 SLC6A20 UQCC2 Noonan Syndrome BRAF BBS9 Joubert Syndrome Type 3, 4, AHI1 GDNF Dent Disease CLCN5 PTPN11 Renal Agenesis RET Short Stature, Microcephaly, and XRCC4 Vasculitis, Autoinammation, ADA2 Alstrom Syndrome ALMS1 C8ORF37 Fanconi-Bickel Syndrome SLC2A2 Hyperinsulinemic Hypoglycemia, ABCC8 5, 6, 10 with CEP290 Mitochondrial Complex 4 Deciency APOPT1 GREM1 OCRL Endocrine Dysfunction Immunodeciency, and CEP290 Diabetes Mellitus Oculoreneal Defect NPHP1 (COA8) Norum Disease LCAT Renal Cysts and Diabetes Syndrome HNF1B Amelogenesis Imperfecta, FAM20A ROBO2 Fechtner Syndrome MYH9 Denys-Drash Syndrome WT1 OFD1 COX10 Short-Rib Thoracic Dysplasia 5, 9, 10 IFT140 Hematologic Defects Syndrome Type 1G, 2A3 WDR72 LZTFL1 Hyperparathyroidism 2 CDC73 Obesity MC4R Renal Dysplasia, Cystic BICC1 Cardiofaciocutaneous Syndrome KRAS Feingold Syndrome MYCN TMEM67 IFT172 MKKS Diabetes Insipidus, Nephrogenic AQP2 COX14 UCP3 Vesicoureteral Reux 3 SOX17 Amyloidosis APOA1 Floating-Harbor Syndrome SRCAP Hyperphenylalaninemia, PCBD1 COX20 Renal Glucosuria SLC5A1 WDR19 SDCCAG8 Carnitine Palmitoyltransferase 2 CPT2 AVPR2 Junctional Epidermolysis Bullosa- ITGA6 Vitamin D-Dependent Rickets, CYP27B1 APOC2 BH4-Decient Ochoa Syndrome HPSE2 SLC5A2 TRIM32 Deciency Focal Segmental ACTN4 Pyloric Atresia Syndrome ITGB4 COX6B1 Simpson-Golabi-Behmel Syndrome, GPC3 Diabetes insipidus, AVP Type 1A B2M TTC8 Hyperphosphatemic Familial GALNT3 COX8A Orofaciodigital Syndrome 6, I CPLANE1 Renal Hypertension SLC12A2 Type 1 Cataract, Juvenile, with Microcornia SLC16A12 Glomerulosclerosis, Type 2, 4, 5, ALG13 Kallmann Syndrome ANOS1 GSN WDPCP Neurohypophyseal GCK Tumoral Calcinosis FASTKD2 OFD1 Von Hippel-Lindau Syndrome VHL 6, 7 APOL1 FGFR1 Renal Hypodysplasia SIX2 Smith-Lemli-Opitz Syndrome DHCR7 LYZ and Glucosuria Diabetes Mellitus HNF1A PET100 Bartter Syndrome, BSND CD2AP Hyperphosphatemic Tumoral KL PROKR2 Pallister-Hall Syndrome GLI3 UPK3A Wilson Disease ATP7B TTR Cenani-Lenz Syndactyly Syndrome LRP4 PAX4 SCO1 Sneddon Syndrome ADA2 Type 1, 2, 3/4B, 4a CLCNKB INF2 Calcinosis Wiskott-Aldrich Syndrome WAS Kelley-Seegmiller Syndrome HPRT1 TACO1 Papillorenal Syndrome PAX2 Antley-Bixler Syndrome FGFR2 KCNJ1 Cerebral Creatine Deciency GATM Diabetes Mellitus, Juvenile-Onset PCBD1 MYO1E Hyperprolinemia, Type 1 PRODH Permanent Neonatal Diabetes INS Wolcott-Rallison Syndrome EIF2AK3 Apert Syndrome FGFR2 SLC12A1 Syndrome 3 Diabetes Mellitus, Neonatal, GLIS3 PAX2 Koolen-De Vries Syndrome KANSL1 Mitochondrial
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