Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the kidney (HP:0000077)help
Grandparent Node:
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Abnormality of the urinary system physiology (HP:0011277)help
Parent Node:
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Abnormal renal physiology (HP:0012211)help
..Starting node
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Renal insufficiency (HP:0000083)help
Term ID: 83
Name: Renal insufficiency
Synonym: Renal failure; Renal failure in adulthood
Definition: A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Comments:
Reference: HP:0000083
Genes and Diseases:
 
       Child Nodes:
........expandAcute kidney injury (HP:0001919) help
........expandReversible renal failure (HP:0004713) help
........expandChronic kidney disease (HP:0012622) help
................... HP:0003774 Stage 5 chronic kidney disease
................... HP:0012623 Stage 1 chronic kidney disease
................... HP:0012624 Stage 2 chronic kidney disease
................... HP:0012625 Stage 3 chronic kidney disease
................... HP:0012626 Stage 4 chronic kidney disease

 Sister Nodes: 
..expandAbnormal glomerular filtration rate (HP:0012212) help
..expandAbnormal renal tubular resorption (HP:0011038) help
..expandAbnormality of renal excretion (HP:0011036) help
..expandElevated alkaline phosphatase of renal origin (HP:0010680) help
..expandHematuria (HP:0000790) help
..expandHemolytic-uremic syndrome (HP:0005575) help
..expandImpaired urinary acidification (HP:0031033) help
..expandIsothenuria (HP:0030036) help
..expandLow alkaline phosphatase of renal origin (HP:0010685) help
..expandNephritis (HP:0000123) help
..expandNephropathy (HP:0000112) help
..expandNephrotic syndrome (HP:0000100) help
..expandRenal tubular dysfunction (HP:0000124) help
..expandRenovascular hypertension (HP:0100817) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000083HP:0000083Renal insufficiency0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional130
HP:0000083HP:0000083Renal insufficiency0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0000083HP:0000083Renal insufficiency0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent19
HP:0000083HP:0000083Renal insufficiency0ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 127
HP:0000083HP:0000083Renal insufficiency0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndrome27
HP:0000083HP:0000083Renal insufficiency0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I.260
HP:0000083HP:0000083Renal insufficiency0AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1260
HP:0000083HP:0000083Renal insufficiency0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0000083HP:0000083Renal insufficiency0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0000083HP:0000083Renal insufficiency0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0000083HP:0000083Renal insufficiency0ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0000083HP:0000083Renal insufficiency0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040283 - Occasional58
HP:0000083HP:0000083Renal insufficiency0ALG5 CL E G H2988020266OMIM:620056
HP:0000083HP:0000083Renal insufficiency0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent
HP:0000083HP:0000083Renal insufficiency0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent93
HP:0000083HP:0000083Renal insufficiency0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000083HP:0000083Renal insufficiency0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000083HP:0000083Renal insufficiency0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional75
HP:0000083HP:0000083Renal insufficiency0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional63
HP:0000083HP:0000083Renal insufficiency0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent2
HP:0000083HP:0000083Renal insufficiency0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000083HP:0000083Renal insufficiency0ANKS6 CL E G H20328626724OMIM:615382Nephronophthisis 16.32
HP:0000083HP:0000083Renal insufficiency0ANLN CL E G H5444314082OMIM:616032Focal segmental glomerulosclerosis 86
HP:0000083HP:0000083Renal insufficiency0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndrome6
HP:0000083HP:0000083Renal insufficiency0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type IIIHP:0040283 - Occasional6
HP:0000083HP:0000083Renal insufficiency0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0APOE CL E G H348613OMIM:611771LIPOPROTEIN GLOMERULOPATHY; LPG39
HP:0000083HP:0000083Renal insufficiency0APOL1 CL E G H8542618OMIM:612551Focal segmental glomerulosclerosis 4, susceptibility to3
HP:0000083HP:0000083Renal insufficiency0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000083HP:0000083Renal insufficiency0APRT CL E G H353626OMIM:614723Adenine phosphoribosyltransferase deficiency.19
HP:0000083HP:0000083Renal insufficiency0APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiencyHP:0040282 - Frequent19
HP:0000083HP:0000083Renal insufficiency0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040283 - Occasional75
HP:0000083HP:0000083Renal insufficiency0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0000083HP:0000083Renal insufficiency0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000083HP:0000083Renal insufficiency0ARHGDIA CL E G H396678OMIM:615244Nephrotic syndrome, type 83
HP:0000083HP:0000083Renal insufficiency0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0AVIL CL E G H1067714188OMIM:618594NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000083HP:0000083Renal insufficiency0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040283 - Occasional67
HP:0000083HP:0000083Renal insufficiency0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosis8
HP:0000083HP:0000083Renal insufficiency0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0BBIP1 CL E G H9248228093OMIM:615995Bardet-Biedl syndrome 18.1
HP:0000083HP:0000083Renal insufficiency0BBS10 CL E G H7973826291OMIM:615987Bardet-Biedl syndrome 10.118
HP:0000083HP:0000083Renal insufficiency0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0000083HP:0000083Renal insufficiency0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent5
HP:0000083HP:0000083Renal insufficiency0BICC1 CL E G H8011419351OMIM:601331Renal dysplasia, cystic, susceptibility to.5
HP:0000083HP:0000083Renal insufficiency0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040283 - Occasional22
HP:0000083HP:0000083Renal insufficiency0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000083HP:0000083Renal insufficiency0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000083HP:0000083Renal insufficiency0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000083HP:0000083Renal insufficiency0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0000083HP:0000083Renal insufficiency0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0000083HP:0000083Renal insufficiency0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive.92
HP:0000083HP:0000083Renal insufficiency0C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 592
HP:0000083HP:0000083Renal insufficiency0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0000083HP:0000083Renal insufficiency0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0000083HP:0000083Renal insufficiency0CAV1 CL E G H8571527ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional11
HP:0000083HP:0000083Renal insufficiency0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0000083HP:0000083Renal insufficiency0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0000083HP:0000083Renal insufficiency0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional247
HP:0000083HP:0000083Renal insufficiency0CCN2 CL E G H14902500ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0CCND1 CL E G H5951582ORPHA:29073Multiple myeloma1
HP:0000083HP:0000083Renal insufficiency0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040282 - Frequent7
HP:0000083HP:0000083Renal insufficiency0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0CCR6 CL E G H12351607ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0000083HP:0000083Renal insufficiency0CD2AP CL E G H2360714258OMIM:607832FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3105
HP:0000083HP:0000083Renal insufficiency0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndrome105
HP:0000083HP:0000083Renal insufficiency0CD46 CL E G H41796953ORPHA:244242HELLP syndrome39
HP:0000083HP:0000083Renal insufficiency0CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 239
HP:0000083HP:0000083Renal insufficiency0CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0000083HP:0000083Renal insufficiency0CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidismHP:0040283 - Occasional169
HP:0000083HP:0000083Renal insufficiency0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0000083HP:0000083Renal insufficiency0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0000083HP:0000083Renal insufficiency0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0000083HP:0000083Renal insufficiency0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndrome34
HP:0000083HP:0000083Renal insufficiency0CEP290 CL E G H8018429021OMIM:615991Bardet-Biedl syndrome 14342
HP:0000083HP:0000083Renal insufficiency0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000083HP:0000083Renal insufficiency0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional342
HP:0000083HP:0000083Renal insufficiency0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndrome342
HP:0000083HP:0000083Renal insufficiency0CEP290 CL E G H8018429021OMIM:610189Senior-Loken syndrome 6342
HP:0000083HP:0000083Renal insufficiency0CEP83 CL E G H5113417966OMIM:615862Nephronophthisis 1810
HP:0000083HP:0000083Renal insufficiency0CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 430
HP:0000083HP:0000083Renal insufficiency0CFH CL E G H30754883OMIM:609814Complement factor H deficiency86
HP:0000083HP:0000083Renal insufficiency0CFH CL E G H30754883ORPHA:244242HELLP syndrome86
HP:0000083HP:0000083Renal insufficiency0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 186
HP:0000083HP:0000083Renal insufficiency0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0000083HP:0000083Renal insufficiency0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0000083HP:0000083Renal insufficiency0CFHR5 CL E G H8149424668OMIM:614809Cfhr5 deficiency.47
HP:0000083HP:0000083Renal insufficiency0CFI CL E G H34265394OMIM:610984Complement factor I deficiency.57
HP:0000083HP:0000083Renal insufficiency0CFI CL E G H34265394ORPHA:244242HELLP syndrome57
HP:0000083HP:0000083Renal insufficiency0CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 357
HP:0000083HP:0000083Renal insufficiency0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000083HP:0000083Renal insufficiency0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040282 - Frequent4
HP:0000083HP:0000083Renal insufficiency0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0000083HP:0000083Renal insufficiency0CLCN5 CL E G H11842023OMIM:300009Dent disease 1.HP:0003581 - Adult onset112
HP:0000083HP:0000083Renal insufficiency0CLCN5 CL E G H11842023OMIM:300554Hypophosphatemic rickets, X-linked recessive.HP:0003581 - Adult onset112
HP:0000083HP:0000083Renal insufficiency0CLCN5 CL E G H11842023OMIM:310468Nephrolithiasis, type I.HP:0003581 - Adult onset112
HP:0000083HP:0000083Renal insufficiency0CLCN5 CL E G H11842023OMIM:308990Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis.112
HP:0000083HP:0000083Renal insufficiency0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0000083HP:0000083Renal insufficiency0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0000083HP:0000083Renal insufficiency0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0000083HP:0000083Renal insufficiency0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0000083HP:0000083Renal insufficiency0CLDN10 CL E G H90712033OMIM:617671Helix syndrome.3
HP:0000083HP:0000083Renal insufficiency0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal58
HP:0000083HP:0000083Renal insufficiency0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement42
HP:0000083HP:0000083Renal insufficiency0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040283 - Occasional38
HP:0000083HP:0000083Renal insufficiency0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000083HP:0000083Renal insufficiency0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps.193
HP:0000083HP:0000083Renal insufficiency0COL4A1 CL E G H12822202ORPHA:73229HANAC syndromeHP:0040281 - Very frequent193
HP:0000083HP:0000083Renal insufficiency0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0000083HP:0000083Renal insufficiency0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0000083HP:0000083Renal insufficiency0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndrome161
HP:0000083HP:0000083Renal insufficiency0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0000083HP:0000083Renal insufficiency0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0000083HP:0000083Renal insufficiency0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0000083HP:0000083Renal insufficiency0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0000083HP:0000083Renal insufficiency0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0000083HP:0000083Renal insufficiency0COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 639
HP:0000083HP:0000083Renal insufficiency0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndrome35
HP:0000083HP:0000083Renal insufficiency0COQ8B CL E G H7993419041OMIM:615573Nephrotic syndrome, type 935
HP:0000083HP:0000083Renal insufficiency0CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0000083HP:0000083Renal insufficiency0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0000083HP:0000083Renal insufficiency0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0000083HP:0000083Renal insufficiency0CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic formHP:0040283 - Occasional101
HP:0000083HP:0000083Renal insufficiency0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0000083HP:0000083Renal insufficiency0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0000083HP:0000083Renal insufficiency0CPT2 CL E G H13762330OMIM:255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced.101
HP:0000083HP:0000083Renal insufficiency0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndrome12
HP:0000083HP:0000083Renal insufficiency0CRB2 CL E G H28620418688OMIM:219730Ventriculomegaly with cystic kidney disease.12
HP:0000083HP:0000083Renal insufficiency0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000083HP:0000083Renal insufficiency0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0000083HP:0000083Renal insufficiency0CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type178
HP:0000083HP:0000083Renal insufficiency0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000083HP:0000083Renal insufficiency0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040282 - Frequent178
HP:0000083HP:0000083Renal insufficiency0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional54
HP:0000083HP:0000083Renal insufficiency0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000083HP:0000083Renal insufficiency0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0000083HP:0000083Renal insufficiency0DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 198
HP:0000083HP:0000083Renal insufficiency0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000083HP:0000083Renal insufficiency0DGKE CL E G H85262852OMIM:615008Nephrotic syndrome, type 717
HP:0000083HP:0000083Renal insufficiency0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0000083HP:0000083Renal insufficiency0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent
HP:0000083HP:0000083Renal insufficiency0DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease.
HP:0000083HP:0000083Renal insufficiency0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0000083HP:0000083Renal insufficiency0DSTYK CL E G H2577829043OMIM:610805Congenital anomalies of kidney and urinary tract, susceptibility to13
HP:0000083HP:0000083Renal insufficiency0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040283 - Occasional304
HP:0000083HP:0000083Renal insufficiency0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0000083HP:0000083Renal insufficiency0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0000083HP:0000083Renal insufficiency0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0000083HP:0000083Renal insufficiency0EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndrome2
HP:0000083HP:0000083Renal insufficiency0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0000083HP:0000083Renal insufficiency0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000083HP:0000083Renal insufficiency0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0000083HP:0000083Renal insufficiency0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000083HP:0000083Renal insufficiency0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome.172
HP:0000083HP:0000083Renal insufficiency0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040283 - Occasional133
HP:0000083HP:0000083Renal insufficiency0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0000083HP:0000083Renal insufficiency0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000083HP:0000083Renal insufficiency0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000083HP:0000083Renal insufficiency0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000083HP:0000083Renal insufficiency0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000083HP:0000083Renal insufficiency0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000083HP:0000083Renal insufficiency0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000083HP:0000083Renal insufficiency0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000083HP:0000083Renal insufficiency0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000083HP:0000083Renal insufficiency0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000083HP:0000083Renal insufficiency0EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040283 - Occasional135
HP:0000083HP:0000083Renal insufficiency0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0000083HP:0000083Renal insufficiency0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:0000083HP:0000083Renal insufficiency0FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndromeHP:0040282 - Frequent16
HP:0000083HP:0000083Renal insufficiency0FAN1 CL E G H2290929170OMIM:614817Interstitial nephritis, karyomegalic15
HP:0000083HP:0000083Renal insufficiency0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000083HP:0000083Renal insufficiency0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000083HP:0000083Renal insufficiency0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000083HP:0000083Renal insufficiency0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000083HP:0000083Renal insufficiency0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000083HP:0000083Renal insufficiency0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000083HP:0000083Renal insufficiency0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000083HP:0000083Renal insufficiency0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000083HP:0000083Renal insufficiency0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000083HP:0000083Renal insufficiency0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000083HP:0000083Renal insufficiency0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0000083HP:0000083Renal insufficiency0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0000083HP:0000083Renal insufficiency0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0000083HP:0000083Renal insufficiency0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0FLT1 CL E G H23213763ORPHA:275555Preeclampsia11
HP:0000083HP:0000083Renal insufficiency0FN1 CL E G H23353778ORPHA:84090Fibronectin glomerulopathyHP:0040281 - Very frequent9
HP:0000083HP:0000083Renal insufficiency0FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 2.9
HP:0000083HP:0000083Renal insufficiency0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional3
HP:0000083HP:0000083Renal insufficiency0FXYD2 CL E G H4864026OMIM:154020Hypomagnesemia 2, renalHP:0040283 - Occasional17
HP:0000083HP:0000083Renal insufficiency0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent6
HP:0000083HP:0000083Renal insufficiency0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000083HP:0000083Renal insufficiency0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0000083HP:0000083Renal insufficiency0GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndromeHP:0040282 - Frequent83
HP:0000083HP:0000083Renal insufficiency0GATM CL E G H26284175OMIM:134600Fanconi renotubular syndrome 1.86
HP:0000083HP:0000083Renal insufficiency0GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndrome86
HP:0000083HP:0000083Renal insufficiency0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0000083HP:0000083Renal insufficiency0GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidismHP:0040283 - Occasional51
HP:0000083HP:0000083Renal insufficiency0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0000083HP:0000083Renal insufficiency0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0000083HP:0000083Renal insufficiency0GLIS2 CL E G H8466229450OMIM:611498NEPHRONOPHTHISIS 7; NPHP783
HP:0000083HP:0000083Renal insufficiency0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000083HP:0000083Renal insufficiency0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0GRHPR CL E G H93804570OMIM:260000Hyperoxaluria, primary, type IIHP:0040283 - Occasional70
HP:0000083HP:0000083Renal insufficiency0GRHPR CL E G H93804570ORPHA:93599Primary hyperoxaluria type 2HP:0040283 - Occasional70
HP:0000083HP:0000083Renal insufficiency0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000083HP:0000083Renal insufficiency0GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type.53
HP:0000083HP:0000083Renal insufficiency0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000083HP:0000083Renal insufficiency0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000083HP:0000083Renal insufficiency0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000083HP:0000083Renal insufficiency0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0000083HP:0000083Renal insufficiency0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0000083HP:0000083Renal insufficiency0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndrome
HP:0000083HP:0000083Renal insufficiency0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0000083HP:0000083Renal insufficiency0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0000083HP:0000083Renal insufficiency0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0000083HP:0000083Renal insufficiency0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0HLA-DRB1 CL E G H31234948ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040282 - Frequent81
HP:0000083HP:0000083Renal insufficiency0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional90
HP:0000083HP:0000083Renal insufficiency0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040281 - Very frequent90
HP:0000083HP:0000083Renal insufficiency0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0000083HP:0000083Renal insufficiency0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0000083HP:0000083Renal insufficiency0HPRT1 CL E G H32515157OMIM:300323Gout, hprt-related.76
HP:0000083HP:0000083Renal insufficiency0HPRT1 CL E G H32515157ORPHA:79233Hypoxanthine guanine phosphoribosyltransferase partial deficiencyHP:0040283 - Occasional76
HP:0000083HP:0000083Renal insufficiency0HPRT1 CL E G H32515157ORPHA:510Lesch-Nyhan syndromeHP:0040282 - Frequent76
HP:0000083HP:0000083Renal insufficiency0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0000083HP:0000083Renal insufficiency0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndromeHP:0040283 - Occasional9
HP:0000083HP:0000083Renal insufficiency0HRAS CL E G H32655173OMIM:218040Costello syndromeHP:0040283 - Occasional113
HP:0000083HP:0000083Renal insufficiency0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040283 - Occasional14
HP:0000083HP:0000083Renal insufficiency0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0000083HP:0000083Renal insufficiency0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0000083HP:0000083Renal insufficiency0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000083HP:0000083Renal insufficiency0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent148
HP:0000083HP:0000083Renal insufficiency0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040283 - Occasional148
HP:0000083HP:0000083Renal insufficiency0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000083HP:0000083Renal insufficiency0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040283 - Occasional48
HP:0000083HP:0000083Renal insufficiency0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0000083HP:0000083Renal insufficiency0IFT27 CL E G H1102018626OMIM:615996Bardet-Biedl syndrome 19.1
HP:0000083HP:0000083Renal insufficiency0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 311
HP:0000083HP:0000083Renal insufficiency0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040283 - Occasional65
HP:0000083HP:0000083Renal insufficiency0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0000083HP:0000083Renal insufficiency0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E135
HP:0000083HP:0000083Renal insufficiency0INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0000083HP:0000083Renal insufficiency0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndrome135
HP:0000083HP:0000083Renal insufficiency0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0000083HP:0000083Renal insufficiency0INVS CL E G H2713017870OMIM:602088Nephronophthisis 2106
HP:0000083HP:0000083Renal insufficiency0INVS CL E G H2713017870ORPHA:3156Senior-Loken syndrome106
HP:0000083HP:0000083Renal insufficiency0IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndrome61
HP:0000083HP:0000083Renal insufficiency0IQCB1 CL E G H965728949OMIM:609254Senior-Loken syndrome 561
HP:0000083HP:0000083Renal insufficiency0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0IRF5 CL E G H36636120ORPHA:220393Diffuse cutaneous systemic sclerosisHP:0040283 - Occasional4
HP:0000083HP:0000083Renal insufficiency0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0000083HP:0000083Renal insufficiency0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000083HP:0000083Renal insufficiency0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000083HP:0000083Renal insufficiency0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040282 - Frequent5
HP:0000083HP:0000083Renal insufficiency0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0000083HP:0000083Renal insufficiency0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000083HP:0000083Renal insufficiency0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0000083HP:0000083Renal insufficiency0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked
HP:0000083HP:0000083Renal insufficiency0LAMA5 CL E G H39116485OMIM:6200495
HP:0000083HP:0000083Renal insufficiency0LAMB2 CL E G H39136487OMIM:614199Nephrotic syndrome, type 5, with or without ocular abnormalities92
HP:0000083HP:0000083Renal insufficiency0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000083HP:0000083Renal insufficiency0LCAT CL E G H39316522OMIM:245900Lecithin:cholesterol acyltransferase deficiency.26
HP:0000083HP:0000083Renal insufficiency0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0000083HP:0000083Renal insufficiency0LDHA CL E G H39396535OMIM:612933Glycogen storage disease XI.35
HP:0000083HP:0000083Renal insufficiency0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0000083HP:0000083Renal insufficiency0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000083HP:0000083Renal insufficiency0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0000083HP:0000083Renal insufficiency0LMX1B CL E G H40106654ORPHA:2613Nail-patella-like renal diseaseHP:0040281 - Very frequent165
HP:0000083HP:0000083Renal insufficiency0LMX1B CL E G H40106654OMIM:256020NAIL-PATELLA-LIKE RENAL DISEASE165
HP:0000083HP:0000083Renal insufficiency0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0000083HP:0000083Renal insufficiency0LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent95
HP:0000083HP:0000083Renal insufficiency0LRIG2 CL E G H986020889ORPHA:2704Ochoa syndromeHP:0040283 - Occasional5
HP:0000083HP:0000083Renal insufficiency0LRIG2 CL E G H986020889OMIM:615112Urofacial syndrome 2.5
HP:0000083HP:0000083Renal insufficiency0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000083HP:0000083Renal insufficiency0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome.63
HP:0000083HP:0000083Renal insufficiency0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndrome59
HP:0000083HP:0000083Renal insufficiency0MAGI2 CL E G H986318957OMIM:617609Nephrotic syndrome, type 1559
HP:0000083HP:0000083Renal insufficiency0MAPKBP1 CL E G H2300529536OMIM:617271Nephronophthisis 20.6
HP:0000083HP:0000083Renal insufficiency0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0000083HP:0000083Renal insufficiency0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000083HP:0000083Renal insufficiency0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0000083HP:0000083Renal insufficiency0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0000083HP:0000083Renal insufficiency0MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0000083HP:0000083Renal insufficiency0MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidismHP:0040283 - Occasional462
HP:0000083HP:0000083Renal insufficiency0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000083HP:0000083Renal insufficiency0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000083HP:0000083Renal insufficiency0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome.1
HP:0000083HP:0000083Renal insufficiency0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0000083HP:0000083Renal insufficiency0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0000083HP:0000083Renal insufficiency0MME CL E G H43117154ORPHA:69063Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunizationHP:0040282 - Frequent18
HP:0000083HP:0000083Renal insufficiency0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0000083HP:0000083Renal insufficiency0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0000083HP:0000083Renal insufficiency0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0MOCOS CL E G H5503418234OMIM:603592Xanthinuria, type IIHP:0040283 - Occasional4
HP:0000083HP:0000083Renal insufficiency0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0000083HP:0000083Renal insufficiency0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0000083HP:0000083Renal insufficiency0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040283 - Occasional35
HP:0000083HP:0000083Renal insufficiency0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0000083HP:0000083Renal insufficiency0MYH9 CL E G H46277579ORPHA:182050MYH9-related diseaseHP:0040282 - Frequent297
HP:0000083HP:0000083Renal insufficiency0MYO1E CL E G H46437599OMIM:614131Focal segmental glomerulosclerosis 63
HP:0000083HP:0000083Renal insufficiency0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000083HP:0000083Renal insufficiency0MYOCD CL E G H9364916067OMIM:618719MEGABLADDER, CONGENITAL; MGBL3
HP:0000083HP:0000083Renal insufficiency0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000083HP:0000083Renal insufficiency0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0000083HP:0000083Renal insufficiency0NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndrome39
HP:0000083HP:0000083Renal insufficiency0NEK8 CL E G H28408613387OMIM:613824NEPHRONOPHTHISIS 9; NPHP943
HP:0000083HP:0000083Renal insufficiency0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0000083HP:0000083Renal insufficiency0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional60
HP:0000083HP:0000083Renal insufficiency0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0000083HP:0000083Renal insufficiency0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0000083HP:0000083Renal insufficiency0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0000083HP:0000083Renal insufficiency0NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0000083HP:0000083Renal insufficiency0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2138
HP:0000083HP:0000083Renal insufficiency0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 4.85
HP:0000083HP:0000083Renal insufficiency0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0000083HP:0000083Renal insufficiency0NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 185
HP:0000083HP:0000083Renal insufficiency0NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndrome85
HP:0000083HP:0000083Renal insufficiency0NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 185
HP:0000083HP:0000083Renal insufficiency0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0000083HP:0000083Renal insufficiency0NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3.HP:0011462 - Young adult onset157
HP:0000083HP:0000083Renal insufficiency0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0000083HP:0000083Renal insufficiency0NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndrome157
HP:0000083HP:0000083Renal insufficiency0NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4220
HP:0000083HP:0000083Renal insufficiency0NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndrome220
HP:0000083HP:0000083Renal insufficiency0NPHP4 CL E G H26173419104OMIM:606996Senior-Loken syndrome 4220
HP:0000083HP:0000083Renal insufficiency0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndrome241
HP:0000083HP:0000083Renal insufficiency0NPHS1 CL E G H48687908OMIM:256300Nephrotic syndrome, type 1.241
HP:0000083HP:0000083Renal insufficiency0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndrome69
HP:0000083HP:0000083Renal insufficiency0NPHS2 CL E G H782713394OMIM:600995Nephrotic syndrome, type 269
HP:0000083HP:0000083Renal insufficiency0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0000083HP:0000083Renal insufficiency0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0000083HP:0000083Renal insufficiency0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000083HP:0000083Renal insufficiency0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0000083HP:0000083Renal insufficiency0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0000083HP:0000083Renal insufficiency0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000083HP:0000083Renal insufficiency0NUP133 CL E G H5574618016OMIM:618177NEPHROTIC SYNDROME, TYPE 18; NPHS181
HP:0000083HP:0000083Renal insufficiency0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000083HP:0000083Renal insufficiency0NUP160 CL E G H2327918017OMIM:618178Nephrotic syndrome, type 19
HP:0000083HP:0000083Renal insufficiency0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000083HP:0000083Renal insufficiency0NUP205 CL E G H2316518658OMIM:616893NEPHROTIC SYNDROME, TYPE 13; NPHS131
HP:0000083HP:0000083Renal insufficiency0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000083HP:0000083Renal insufficiency0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000083HP:0000083Renal insufficiency0NUP85 CL E G H799028734OMIM:618176Nephrotic syndrome, type 17
HP:0000083HP:0000083Renal insufficiency0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0000083HP:0000083Renal insufficiency0NUP93 CL E G H968828958OMIM:616892Nephrotic syndrome, type 125
HP:0000083HP:0000083Renal insufficiency0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyriaHP:0040283 - Occasional23
HP:0000083HP:0000083Renal insufficiency0OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0000083HP:0000083Renal insufficiency0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0000083HP:0000083Renal insufficiency0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0000083HP:0000083Renal insufficiency0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000083HP:0000083Renal insufficiency0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3
HP:0000083HP:0000083Renal insufficiency0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000083HP:0000083Renal insufficiency0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000083HP:0000083Renal insufficiency0PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 739
HP:0000083HP:0000083Renal insufficiency0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndrome39
HP:0000083HP:0000083Renal insufficiency0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000083HP:0000083Renal insufficiency0PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040281 - Very frequent39
HP:0000083HP:0000083Renal insufficiency0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0000083HP:0000083Renal insufficiency0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome194
HP:0000083HP:0000083Renal insufficiency0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayHP:0040284 - Very rare3
HP:0000083HP:0000083Renal insufficiency0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0000083HP:0000083Renal insufficiency0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040283 - Occasional72
HP:0000083HP:0000083Renal insufficiency0PGAM2 CL E G H52248889OMIM:261670Phosphoglycerate mutase, muscle, deficiency of.26
HP:0000083HP:0000083Renal insufficiency0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040283 - Occasional21
HP:0000083HP:0000083Renal insufficiency0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiencyHP:0040283 - Occasional21
HP:0000083HP:0000083Renal insufficiency0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040283 - Occasional45
HP:0000083HP:0000083Renal insufficiency0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0000083HP:0000083Renal insufficiency0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent342
HP:0000083HP:0000083Renal insufficiency0PKD1 CL E G H53109008OMIM:173900Polycystic kidneys.342
HP:0000083HP:0000083Renal insufficiency0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040281 - Very frequent106
HP:0000083HP:0000083Renal insufficiency0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2.106
HP:0000083HP:0000083Renal insufficiency0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000083HP:0000083Renal insufficiency0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0000083HP:0000083Renal insufficiency0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0000083HP:0000083Renal insufficiency0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndrome118
HP:0000083HP:0000083Renal insufficiency0PLCE1 CL E G H5119617175OMIM:610725Nephrotic syndrome, type 3118
HP:0000083HP:0000083Renal insufficiency0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040282 - Frequent103
HP:0000083HP:0000083Renal insufficiency0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000083HP:0000083Renal insufficiency0PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0000083HP:0000083Renal insufficiency0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0000083HP:0000083Renal insufficiency0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0000083HP:0000083Renal insufficiency0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000083HP:0000083Renal insufficiency0PRPS1 CL E G H56319462ORPHA:411536Mild phosphoribosylpyrophosphate synthetase superactivityHP:0040283 - Occasional49
HP:0000083HP:0000083Renal insufficiency0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity.49
HP:0000083HP:0000083Renal insufficiency0PRPS1 CL E G H56319462ORPHA:411543Severe phosphoribosylpyrophosphate synthetase superactivityHP:0040282 - Frequent49
HP:0000083HP:0000083Renal insufficiency0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000083HP:0000083Renal insufficiency0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0000083HP:0000083Renal insufficiency0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndrome2
HP:0000083HP:0000083Renal insufficiency0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0000083HP:0000083Renal insufficiency0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiency166
HP:0000083HP:0000083Renal insufficiency0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0000083HP:0000083Renal insufficiency0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000083HP:0000083Renal insufficiency0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000083HP:0000083Renal insufficiency0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0000083HP:0000083Renal insufficiency0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0000083HP:0000083Renal insufficiency0REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 225
HP:0000083HP:0000083Renal insufficiency0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0000083HP:0000083Renal insufficiency0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000083HP:0000083Renal insufficiency0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0000083HP:0000083Renal insufficiency0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0000083HP:0000083Renal insufficiency0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0000083HP:0000083Renal insufficiency0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0000083HP:0000083Renal insufficiency0RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000083HP:0000083Renal insufficiency0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0000083HP:0000083Renal insufficiency0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0000083HP:0000083Renal insufficiency0SAA1 CL E G H628810513ORPHA:85445AA amyloidosis2
HP:0000083HP:0000083Renal insufficiency0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0000083HP:0000083Renal insufficiency0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000083HP:0000083Renal insufficiency0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome60
HP:0000083HP:0000083Renal insufficiency0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0000083HP:0000083Renal insufficiency0SCNN1A CL E G H633710599ORPHA:526Liddle syndromeHP:0040282 - Frequent67
HP:0000083HP:0000083Renal insufficiency0SCNN1B CL E G H633810600ORPHA:526Liddle syndromeHP:0040282 - Frequent61
HP:0000083HP:0000083Renal insufficiency0SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 1.61
HP:0000083HP:0000083Renal insufficiency0SCNN1G CL E G H634010602ORPHA:526Liddle syndromeHP:0040282 - Frequent57
HP:0000083HP:0000083Renal insufficiency0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0000083HP:0000083Renal insufficiency0SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndrome61
HP:0000083HP:0000083Renal insufficiency0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0SEC61A1 CL E G H2992718276OMIM:617056Tubulointerstitial kidney disease, autosomal dominant, 52
HP:0000083HP:0000083Renal insufficiency0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0000083HP:0000083Renal insufficiency0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 148
HP:0000083HP:0000083Renal insufficiency0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0000083HP:0000083Renal insufficiency0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0000083HP:0000083Renal insufficiency0SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040283 - Occasional50
HP:0000083HP:0000083Renal insufficiency0SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040283 - Occasional10
HP:0000083HP:0000083Renal insufficiency0SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 2.10
HP:0000083HP:0000083Renal insufficiency0SLC22A12 CL E G H11608517989ORPHA:94088Hereditary renal hypouricemia56
HP:0000083HP:0000083Renal insufficiency0SLC22A12 CL E G H11608517989OMIM:220150Hypouricemia, renal, 156
HP:0000083HP:0000083Renal insufficiency0SLC26A1 CL E G H1086110993OMIM:167030Nephrolithiasis, calcium oxalate24
HP:0000083HP:0000083Renal insufficiency0SLC2A9 CL E G H5660613446ORPHA:94088Hereditary renal hypouricemia57
HP:0000083HP:0000083Renal insufficiency0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0000083HP:0000083Renal insufficiency0SLC34A1 CL E G H656911019OMIM:613388Fanconi renotubular syndrome 2.47
HP:0000083HP:0000083Renal insufficiency0SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndrome47
HP:0000083HP:0000083Renal insufficiency0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0000083HP:0000083Renal insufficiency0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0000083HP:0000083Renal insufficiency0SLC3A1 CL E G H651911025OMIM:220100CYSTINURIA.55
HP:0000083HP:0000083Renal insufficiency0SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0000083HP:0000083Renal insufficiency0SLC5A1 CL E G H652311036ORPHA:35710Glucose-galactose malabsorptionHP:0040283 - Occasional74
HP:0000083HP:0000083Renal insufficiency0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance104
HP:0000083HP:0000083Renal insufficiency0SLC7A9 CL E G H1113611067OMIM:220100CYSTINURIA.58
HP:0000083HP:0000083Renal insufficiency0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000083HP:0000083Renal insufficiency0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0000083HP:0000083Renal insufficiency0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0000083HP:0000083Renal insufficiency0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0000083HP:0000083Renal insufficiency0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0000083HP:0000083Renal insufficiency0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000083HP:0000083Renal insufficiency0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0000083HP:0000083Renal insufficiency0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0000083HP:0000083Renal insufficiency0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0000083HP:0000083Renal insufficiency0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent2
HP:0000083HP:0000083Renal insufficiency0STOX1 CL E G H21973623508ORPHA:275555Preeclampsia2
HP:0000083HP:0000083Renal insufficiency0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0000083HP:0000083Renal insufficiency0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional4
HP:0000083HP:0000083Renal insufficiency0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000083HP:0000083Renal insufficiency0TBC1D8B CL E G H5488524715OMIM:301028Nephrotic syndrome, type 201
HP:0000083HP:0000083Renal insufficiency0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000083HP:0000083Renal insufficiency0TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 2HP:0040283 - Occasional5
HP:0000083HP:0000083Renal insufficiency0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0000083HP:0000083Renal insufficiency0TCN2 CL E G H694811653ORPHA:859Transcobalamin deficiency57
HP:0000083HP:0000083Renal insufficiency0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional98
HP:0000083HP:0000083Renal insufficiency0THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 660
HP:0000083HP:0000083Renal insufficiency0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0000083HP:0000083Renal insufficiency0TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 294
HP:0000083HP:0000083Renal insufficiency0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional39
HP:0000083HP:0000083Renal insufficiency0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0000083HP:0000083Renal insufficiency0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional45
HP:0000083HP:0000083Renal insufficiency0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional33
HP:0000083HP:0000083Renal insufficiency0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0000083HP:0000083Renal insufficiency0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional82
HP:0000083HP:0000083Renal insufficiency0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0000083HP:0000083Renal insufficiency0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome.2
HP:0000083HP:0000083Renal insufficiency0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0TMEM67 CL E G H9114728396OMIM:615991Bardet-Biedl syndrome 14166
HP:0000083HP:0000083Renal insufficiency0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0000083HP:0000083Renal insufficiency0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6166
HP:0000083HP:0000083Renal insufficiency0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0000083HP:0000083Renal insufficiency0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000083HP:0000083Renal insufficiency0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0000083HP:0000083Renal insufficiency0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000083HP:0000083Renal insufficiency0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4
HP:0000083HP:0000083Renal insufficiency0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0000083HP:0000083Renal insufficiency0TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndrome6
HP:0000083HP:0000083Renal insufficiency0TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 96
HP:0000083HP:0000083Renal insufficiency0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathyHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2107
HP:0000083HP:0000083Renal insufficiency0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndrome107
HP:0000083HP:0000083Renal insufficiency0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0000083HP:0000083Renal insufficiency0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0000083HP:0000083Renal insufficiency0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040283 - Occasional132
HP:0000083HP:0000083Renal insufficiency0TTC21B CL E G H7980925660OMIM:613820Nephronophthisis 12132
HP:0000083HP:0000083Renal insufficiency0TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly132
HP:0000083HP:0000083Renal insufficiency0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000083HP:0000083Renal insufficiency0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000083HP:0000083Renal insufficiency0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000083HP:0000083Renal insufficiency0UMOD CL E G H736912559OMIM:162000Hyperuricemic nephropathy, familial juvenile, 1.66
HP:0000083HP:0000083Renal insufficiency0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional111
HP:0000083HP:0000083Renal insufficiency0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000083HP:0000083Renal insufficiency0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0000083HP:0000083Renal insufficiency0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040283 - Occasional95
HP:0000083HP:0000083Renal insufficiency0WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 1395
HP:0000083HP:0000083Renal insufficiency0WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndrome95
HP:0000083HP:0000083Renal insufficiency0WDR19 CL E G H5772818340OMIM:616307Senior-Loken syndrome 895
HP:0000083HP:0000083Renal insufficiency0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0000083HP:0000083Renal insufficiency0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000083HP:0000083Renal insufficiency0WDR73 CL E G H8494225928ORPHA:83472CAMOS syndromeHP:0040282 - Frequent14
HP:0000083HP:0000083Renal insufficiency0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0000083HP:0000083Renal insufficiency0WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome177
HP:0000083HP:0000083Renal insufficiency0WT1 CL E G H749012796ORPHA:347Frasier syndromeHP:0040282 - Frequent177
HP:0000083HP:0000083Renal insufficiency0WT1 CL E G H749012796OMIM:136680Frasier syndrome177
HP:0000083HP:0000083Renal insufficiency0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndrome177
HP:0000083HP:0000083Renal insufficiency0WT1 CL E G H749012796OMIM:256370Nephrotic syndrome, type 4.177
HP:0000083HP:0000083Renal insufficiency0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome177
HP:0000083HP:0000083Renal insufficiency0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0000083HP:0000083Renal insufficiency0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000083HP:0000083Renal insufficiency0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000083HP:0000083Renal insufficiency0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0000083HP:0000083Renal insufficiency0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional49
HP:0000083HP:0000083Renal insufficiency0ZNF592 CL E G H964028986ORPHA:83472CAMOS syndromeHP:0040282 - Frequent4
HP:0000083HP:0000083Renal insufficiency0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000083HP:0000083Renal insufficiency0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000083HP:0004713Reversible renal failure1 CL E G H
HP:0000083HP:0012622Chronic kidney disease1ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040282 - Frequent16
HP:0000083HP:0012622Chronic kidney disease1ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 127
HP:0000083HP:0012622Chronic kidney disease1ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent27
HP:0000083HP:0012622Chronic kidney disease1AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1260
HP:0000083HP:0012622Chronic kidney disease1AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0000083HP:0001919Acute kidney injury1ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040283 - Occasional50
HP:0000083HP:0012622Chronic kidney disease1ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0000083HP:0012622Chronic kidney disease1ALG5 CL E G H2988020266OMIM:620056
HP:0000083HP:0012622Chronic kidney disease1ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent93
HP:0000083HP:0012622Chronic kidney disease1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000083HP:0012622Chronic kidney disease1ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1ANKS6 CL E G H20328626724OMIM:615382Nephronophthisis 1632
HP:0000083HP:0012622Chronic kidney disease1ANLN CL E G H5444314082OMIM:616032Focal segmental glomerulosclerosis 86
HP:0000083HP:0012622Chronic kidney disease1ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent6
HP:0000083HP:0012622Chronic kidney disease1APOL1 CL E G H8542618OMIM:612551Focal segmental glomerulosclerosis 4, susceptibility to3
HP:0000083HP:0012622Chronic kidney disease1APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000083HP:0001919Acute kidney injury1APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiencyHP:0040282 - Frequent19
HP:0000083HP:0012622Chronic kidney disease1APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiencyHP:0040282 - Frequent19
HP:0000083HP:0012622Chronic kidney disease1ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000083HP:0012622Chronic kidney disease1ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000083HP:0012622Chronic kidney disease1ARHGDIA CL E G H396678OMIM:615244Nephrotic syndrome, type 8.3
HP:0000083HP:0012622Chronic kidney disease1AVIL CL E G H1067714188OMIM:618594NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000083HP:0012622Chronic kidney disease1B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040282 - Frequent8
HP:0000083HP:0012622Chronic kidney disease1BBIP1 CL E G H9248228093OMIM:615995Bardet-Biedl syndrome 181
HP:0000083HP:0012622Chronic kidney disease1BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent5
HP:0000083HP:0012622Chronic kidney disease1BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040281 - Very frequent22
HP:0000083HP:0012622Chronic kidney disease1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0000083HP:0001919Acute kidney injury1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional53
HP:0000083HP:0001919Acute kidney injury1C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 5.92
HP:0000083HP:0012622Chronic kidney disease1C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 592
HP:0000083HP:0001919Acute kidney injury1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0000083HP:0012622Chronic kidney disease1CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0000083HP:0001919Acute kidney injury1CCND1 CL E G H5951582ORPHA:29073Multiple myelomaHP:0040282 - Frequent1
HP:0000083HP:0012622Chronic kidney disease1CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0000083HP:0012622Chronic kidney disease1CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent105
HP:0000083HP:0001919Acute kidney injury1CD46 CL E G H41796953ORPHA:244242HELLP syndromeHP:0040284 - Very rare39
HP:0000083HP:0001919Acute kidney injury1CD46 CL E G H41796953OMIM:612922Hemolytic uremic syndrome, atypical, susceptibility to, 2.39
HP:0000083HP:0012622Chronic kidney disease1CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0000083HP:0012622Chronic kidney disease1CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent34
HP:0000083HP:0012622Chronic kidney disease1CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000083HP:0012622Chronic kidney disease1CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent342
HP:0000083HP:0012622Chronic kidney disease1CEP290 CL E G H8018429021OMIM:610189Senior-Loken syndrome 6342
HP:0000083HP:0012622Chronic kidney disease1CEP83 CL E G H5113417966OMIM:615862Nephronophthisis 1810
HP:0000083HP:0001919Acute kidney injury1CFB CL E G H6291037OMIM:612924Hemolytic uremic syndrome, atypical, susceptibility to, 4.30
HP:0000083HP:0012622Chronic kidney disease1CFH CL E G H30754883OMIM:609814Complement factor H deficiency.86
HP:0000083HP:0001919Acute kidney injury1CFH CL E G H30754883ORPHA:244242HELLP syndromeHP:0040284 - Very rare86
HP:0000083HP:0001919Acute kidney injury1CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0000083HP:0001919Acute kidney injury1CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000083HP:0001919Acute kidney injury1CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0000083HP:0012622Chronic kidney disease1CFHR5 CL E G H8149424668OMIM:614809Cfhr5 deficiency47
HP:0000083HP:0001919Acute kidney injury1CFI CL E G H34265394ORPHA:244242HELLP syndromeHP:0040284 - Very rare57
HP:0000083HP:0001919Acute kidney injury1CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 3.57
HP:0000083HP:0012622Chronic kidney disease1CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0000083HP:0012622Chronic kidney disease1CLCN5 CL E G H11842023OMIM:300009Dent disease 1.112
HP:0000083HP:0012622Chronic kidney disease1CLCN5 CL E G H11842023OMIM:300554Hypophosphatemic rickets, X-linked recessive.112
HP:0000083HP:0012622Chronic kidney disease1CLCN5 CL E G H11842023OMIM:310468Nephrolithiasis, type I.112
HP:0000083HP:0012622Chronic kidney disease1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0000083HP:0001919Acute kidney injury1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional9
HP:0000083HP:0001919Acute kidney injury1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional27
HP:0000083HP:0012622Chronic kidney disease1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0000083HP:0012622Chronic kidney disease1CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0000083HP:0012622Chronic kidney disease1CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement.42
HP:0000083HP:0012622Chronic kidney disease1COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant161
HP:0000083HP:0012622Chronic kidney disease1COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive161
HP:0000083HP:0012622Chronic kidney disease1COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent161
HP:0000083HP:0012622Chronic kidney disease1COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive174
HP:0000083HP:0012622Chronic kidney disease1COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked678
HP:0000083HP:0012622Chronic kidney disease1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent678
HP:0000083HP:0012622Chronic kidney disease1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent18
HP:0000083HP:0012622Chronic kidney disease1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0000083HP:0012622Chronic kidney disease1COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 639
HP:0000083HP:0012622Chronic kidney disease1COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent35
HP:0000083HP:0012622Chronic kidney disease1COQ8B CL E G H7993419041OMIM:615573Nephrotic syndrome, type 935
HP:0000083HP:0001919Acute kidney injury1CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0000083HP:0012622Chronic kidney disease1CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0000083HP:0001919Acute kidney injury1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0000083HP:0001919Acute kidney injury1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0000083HP:0012622Chronic kidney disease1CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic form101
HP:0000083HP:0012622Chronic kidney disease1CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent12
HP:0000083HP:0012622Chronic kidney disease1CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type178
HP:0000083HP:0012622Chronic kidney disease1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000083HP:0012622Chronic kidney disease1CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040283 - Occasional178
HP:0000083HP:0012622Chronic kidney disease1DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 198
HP:0000083HP:0012622Chronic kidney disease1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000083HP:0001919Acute kidney injury1DGKE CL E G H85262852OMIM:615008Nephrotic syndrome, type 7.17
HP:0000083HP:0012622Chronic kidney disease1DGKE CL E G H85262852OMIM:615008Nephrotic syndrome, type 717
HP:0000083HP:0012622Chronic kidney disease1DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease
HP:0000083HP:0012622Chronic kidney disease1DSTYK CL E G H2577829043OMIM:610805Congenital anomalies of kidney and urinary tract, susceptibility to13
HP:0000083HP:0012622Chronic kidney disease1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0000083HP:0001919Acute kidney injury1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional4
HP:0000083HP:0012622Chronic kidney disease1DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0000083HP:0012622Chronic kidney disease1EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent2
HP:0000083HP:0012622Chronic kidney disease1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0000083HP:0012622Chronic kidney disease1EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000083HP:0012622Chronic kidney disease1FAN1 CL E G H2290929170OMIM:614817Interstitial nephritis, karyomegalic15
HP:0000083HP:0012622Chronic kidney disease1FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0000083HP:0001919Acute kidney injury1FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0000083HP:0012622Chronic kidney disease1FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 29
HP:0000083HP:0012622Chronic kidney disease1GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent6
HP:0000083HP:0012622Chronic kidney disease1GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0000083HP:0012622Chronic kidney disease1GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent86
HP:0000083HP:0012622Chronic kidney disease1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040284 - Very rare115
HP:0000083HP:0012622Chronic kidney disease1GLIS2 CL E G H8466229450OMIM:611498NEPHRONOPHTHISIS 7; NPHP783
HP:0000083HP:0012622Chronic kidney disease1GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000083HP:0012622Chronic kidney disease1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000083HP:0001919Acute kidney injury1HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndromeHP:0040284 - Very rare
HP:0000083HP:0001919Acute kidney injury1HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0000083HP:0012622Chronic kidney disease1HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0000083HP:0001919Acute kidney injury1HPRT1 CL E G H32515157ORPHA:79233Hypoxanthine guanine phosphoribosyltransferase partial deficiencyHP:0040283 - Occasional76
HP:0000083HP:0012622Chronic kidney disease1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000083HP:0012622Chronic kidney disease1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000083HP:0012622Chronic kidney disease1IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent148
HP:0000083HP:0001919Acute kidney injury1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000083HP:0012622Chronic kidney disease1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000083HP:0012622Chronic kidney disease1IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0000083HP:0012622Chronic kidney disease1IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 311
HP:0000083HP:0012622Chronic kidney disease1INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E135
HP:0000083HP:0012622Chronic kidney disease1INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0000083HP:0012622Chronic kidney disease1INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent135
HP:0000083HP:0012622Chronic kidney disease1INVS CL E G H2713017870OMIM:602088Nephronophthisis 2106
HP:0000083HP:0012622Chronic kidney disease1INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent106
HP:0000083HP:0012622Chronic kidney disease1IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0000083HP:0012622Chronic kidney disease1IQCB1 CL E G H965728949OMIM:609254Senior-Loken syndrome 561
HP:0000083HP:0012622Chronic kidney disease1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000083HP:0012622Chronic kidney disease1KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0000083HP:0012622Chronic kidney disease1LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked
HP:0000083HP:0012622Chronic kidney disease1LAMA5 CL E G H39116485OMIM:6200495
HP:0000083HP:0012622Chronic kidney disease1LAMB2 CL E G H39136487OMIM:614199Nephrotic syndrome, type 5, with or without ocular abnormalities92
HP:0000083HP:0012622Chronic kidney disease1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000083HP:0012622Chronic kidney disease1LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040283 - Occasional35
HP:0000083HP:0001919Acute kidney injury1LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040283 - Occasional35
HP:0000083HP:0012622Chronic kidney disease1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0000083HP:0012622Chronic kidney disease1LMX1B CL E G H40106654OMIM:256020NAIL-PATELLA-LIKE RENAL DISEASE165
HP:0000083HP:0001919Acute kidney injury1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0000083HP:0001919Acute kidney injury1LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0000083HP:0012622Chronic kidney disease1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000083HP:0012622Chronic kidney disease1MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0000083HP:0012622Chronic kidney disease1MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent59
HP:0000083HP:0012622Chronic kidney disease1MAGI2 CL E G H986318957OMIM:617609Nephrotic syndrome, type 1559
HP:0000083HP:0012622Chronic kidney disease1MAPKBP1 CL E G H2300529536OMIM:617271Nephronophthisis 206
HP:0000083HP:0012622Chronic kidney disease1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0000083HP:0012622Chronic kidney disease1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0000083HP:0012622Chronic kidney disease1MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0000083HP:0012622Chronic kidney disease1MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0000083HP:0012622Chronic kidney disease1MYO1E CL E G H46437599OMIM:614131Focal segmental glomerulosclerosis 6.3
HP:0000083HP:0012622Chronic kidney disease1MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000083HP:0012622Chronic kidney disease1MYOCD CL E G H9364916067OMIM:618719MEGABLADDER, CONGENITAL; MGBL3
HP:0000083HP:0012622Chronic kidney disease1NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0000083HP:0012622Chronic kidney disease1NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent39
HP:0000083HP:0012622Chronic kidney disease1NEK8 CL E G H28408613387OMIM:613824NEPHRONOPHTHISIS 9; NPHP943
HP:0000083HP:0012622Chronic kidney disease1NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0000083HP:0012622Chronic kidney disease1NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0000083HP:0012622Chronic kidney disease1NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 485
HP:0000083HP:0012622Chronic kidney disease1NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 185
HP:0000083HP:0012622Chronic kidney disease1NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent85
HP:0000083HP:0012622Chronic kidney disease1NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 185
HP:0000083HP:0012622Chronic kidney disease1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0000083HP:0012622Chronic kidney disease1NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3157
HP:0000083HP:0012622Chronic kidney disease1NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0000083HP:0012622Chronic kidney disease1NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent157
HP:0000083HP:0012622Chronic kidney disease1NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4220
HP:0000083HP:0012622Chronic kidney disease1NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent220
HP:0000083HP:0012622Chronic kidney disease1NPHP4 CL E G H26173419104OMIM:606996Senior-Loken syndrome 4220
HP:0000083HP:0012622Chronic kidney disease1NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent241
HP:0000083HP:0012622Chronic kidney disease1NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent69
HP:0000083HP:0012622Chronic kidney disease1NPHS2 CL E G H782713394OMIM:600995Nephrotic syndrome, type 269
HP:0000083HP:0012622Chronic kidney disease1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040284 - Very rare97
HP:0000083HP:0012622Chronic kidney disease1NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000083HP:0012622Chronic kidney disease1NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000083HP:0012622Chronic kidney disease1NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0000083HP:0012622Chronic kidney disease1NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000083HP:0012622Chronic kidney disease1NUP133 CL E G H5574618016OMIM:618177NEPHROTIC SYNDROME, TYPE 18; NPHS181
HP:0000083HP:0012622Chronic kidney disease1NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1NUP160 CL E G H2327918017OMIM:618178Nephrotic syndrome, type 19.
HP:0000083HP:0012622Chronic kidney disease1NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000083HP:0012622Chronic kidney disease1NUP205 CL E G H2316518658OMIM:616893NEPHROTIC SYNDROME, TYPE 13; NPHS131
HP:0000083HP:0012622Chronic kidney disease1NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0012622Chronic kidney disease1NUP85 CL E G H799028734OMIM:618176Nephrotic syndrome, type 17
HP:0000083HP:0012622Chronic kidney disease1NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000083HP:0012622Chronic kidney disease1NUP93 CL E G H968828958OMIM:616892Nephrotic syndrome, type 125
HP:0000083HP:0012622Chronic kidney disease1OCRL CL E G H49528108OMIM:300555Dent disease 2.88
HP:0000083HP:0012622Chronic kidney disease1OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3
HP:0000083HP:0012622Chronic kidney disease1PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 739
HP:0000083HP:0012622Chronic kidney disease1PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent39
HP:0000083HP:0012622Chronic kidney disease1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000083HP:0012622Chronic kidney disease1PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0000083HP:0012622Chronic kidney disease1PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0000083HP:0012622Chronic kidney disease1PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040282 - Frequent46
HP:0000083HP:0001919Acute kidney injury1PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0000083HP:0012622Chronic kidney disease1PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent342
HP:0000083HP:0012622Chronic kidney disease1PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent106
HP:0000083HP:0012622Chronic kidney disease1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000083HP:0001919Acute kidney injury1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional563
HP:0000083HP:0012622Chronic kidney disease1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0000083HP:0012622Chronic kidney disease1PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent118
HP:0000083HP:0012622Chronic kidney disease1PLCE1 CL E G H5119617175OMIM:610725Nephrotic syndrome, type 3118
HP:0000083HP:0012622Chronic kidney disease1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000083HP:0012622Chronic kidney disease1PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040284 - Very rare41
HP:0000083HP:0012622Chronic kidney disease1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000083HP:0012622Chronic kidney disease1PRPS1 CL E G H56319462ORPHA:411536Mild phosphoribosylpyrophosphate synthetase superactivity49
HP:0000083HP:0001919Acute kidney injury1PRPS1 CL E G H56319462ORPHA:411536Mild phosphoribosylpyrophosphate synthetase superactivityHP:0040283 - Occasional49
HP:0000083HP:0001919Acute kidney injury1PRPS1 CL E G H56319462ORPHA:411543Severe phosphoribosylpyrophosphate synthetase superactivityHP:0040283 - Occasional49
HP:0000083HP:0012622Chronic kidney disease1PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent2
HP:0000083HP:0012622Chronic kidney disease1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0000083HP:0012622Chronic kidney disease1PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040284 - Very rare166
HP:0000083HP:0001919Acute kidney injury1PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040283 - Occasional166
HP:0000083HP:0012622Chronic kidney disease1RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0000083HP:0012622Chronic kidney disease1REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 2.25
HP:0000083HP:0012622Chronic kidney disease1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000083HP:0012622Chronic kidney disease1RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0000083HP:0012622Chronic kidney disease1RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0000083HP:0012622Chronic kidney disease1RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000083HP:0001919Acute kidney injury1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040284 - Very rare1200
HP:0000083HP:0001919Acute kidney injury1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0000083HP:0012622Chronic kidney disease1SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040282 - Frequent2
HP:0000083HP:0001919Acute kidney injury1SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040283 - Occasional2
HP:0000083HP:0012622Chronic kidney disease1SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0000083HP:0012622Chronic kidney disease1SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0000083HP:0012622Chronic kidney disease1SEC61A1 CL E G H2992718276OMIM:617056Tubulointerstitial kidney disease, autosomal dominant, 5.2
HP:0000083HP:0012622Chronic kidney disease1SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 148
HP:0000083HP:0012622Chronic kidney disease1SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000083HP:0001919Acute kidney injury1SLC22A12 CL E G H11608517989ORPHA:94088Hereditary renal hypouricemiaHP:0040282 - Frequent56
HP:0000083HP:0012622Chronic kidney disease1SLC22A12 CL E G H11608517989ORPHA:94088Hereditary renal hypouricemiaHP:0040283 - Occasional56
HP:0000083HP:0001919Acute kidney injury1SLC22A12 CL E G H11608517989OMIM:220150Hypouricemia, renal, 1.56
HP:0000083HP:0001919Acute kidney injury1SLC26A1 CL E G H1086110993OMIM:167030Nephrolithiasis, calcium oxalate.24
HP:0000083HP:0001919Acute kidney injury1SLC2A9 CL E G H5660613446ORPHA:94088Hereditary renal hypouricemiaHP:0040282 - Frequent57
HP:0000083HP:0012622Chronic kidney disease1SLC2A9 CL E G H5660613446ORPHA:94088Hereditary renal hypouricemiaHP:0040283 - Occasional57
HP:0000083HP:0012622Chronic kidney disease1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000083HP:0012622Chronic kidney disease1SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent47
HP:0000083HP:0012622Chronic kidney disease1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0000083HP:0012622Chronic kidney disease1SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0000083HP:0012622Chronic kidney disease1SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance104
HP:0000083HP:0012622Chronic kidney disease1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000083HP:0012622Chronic kidney disease1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0000083HP:0012622Chronic kidney disease1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome.7
HP:0000083HP:0012622Chronic kidney disease1SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0000083HP:0012622Chronic kidney disease1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0000083HP:0001919Acute kidney injury1STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0000083HP:0012622Chronic kidney disease1STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0000083HP:0001919Acute kidney injury1STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0000083HP:0012622Chronic kidney disease1TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000083HP:0012622Chronic kidney disease1TBC1D8B CL E G H5488524715OMIM:301028Nephrotic syndrome, type 201
HP:0000083HP:0001919Acute kidney injury1TCN2 CL E G H694811653ORPHA:859Transcobalamin deficiencyHP:0040281 - Very frequent57
HP:0000083HP:0001919Acute kidney injury1THBD CL E G H705611784OMIM:612926Hemolytic uremic syndrome, atypical, susceptibility to, 6.60
HP:0000083HP:0012622Chronic kidney disease1TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 294
HP:0000083HP:0012622Chronic kidney disease1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0000083HP:0012622Chronic kidney disease1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0000083HP:0012622Chronic kidney disease1TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6166
HP:0000083HP:0012622Chronic kidney disease1TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000083HP:0012622Chronic kidney disease1TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0000083HP:0012622Chronic kidney disease1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000083HP:0012622Chronic kidney disease1TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4
HP:0000083HP:0012622Chronic kidney disease1TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0000083HP:0012622Chronic kidney disease1TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent6
HP:0000083HP:0012622Chronic kidney disease1TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 96
HP:0000083HP:0012622Chronic kidney disease1TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2.107
HP:0000083HP:0012622Chronic kidney disease1TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent107
HP:0000083HP:0012622Chronic kidney disease1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000083HP:0012622Chronic kidney disease1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000083HP:0012622Chronic kidney disease1TTC21B CL E G H7980925660OMIM:613820Nephronophthisis 12132
HP:0000083HP:0012622Chronic kidney disease1TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly132
HP:0000083HP:0012622Chronic kidney disease1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000083HP:0012622Chronic kidney disease1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0000083HP:0012622Chronic kidney disease1WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 1395
HP:0000083HP:0012622Chronic kidney disease1WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent95
HP:0000083HP:0012622Chronic kidney disease1WDR19 CL E G H5772818340OMIM:616307Senior-Loken syndrome 895
HP:0000083HP:0012622Chronic kidney disease1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0000083HP:0012622Chronic kidney disease1WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome177
HP:0000083HP:0012622Chronic kidney disease1WT1 CL E G H749012796OMIM:136680Frasier syndrome177
HP:0000083HP:0012622Chronic kidney disease1WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent177
HP:0000083HP:0012622Chronic kidney disease1XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0000083HP:0012622Chronic kidney disease1YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000083HP:0012622Chronic kidney disease1ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0000083HP:0012622Chronic kidney disease1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000083HP:0003774Stage 5 chronic kidney disease2ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 1HP:0040283 - Occasional27
HP:0000083HP:0003774Stage 5 chronic kidney disease2ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent27
HP:0000083HP:0003774Stage 5 chronic kidney disease2AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1HP:0040283 - Occasional260
HP:0000083HP:0003774Stage 5 chronic kidney disease2AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0000083HP:0003774Stage 5 chronic kidney disease2ALG5 CL E G H2988020266OMIM:620056
HP:0000083HP:0003774Stage 5 chronic kidney disease2ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent93
HP:0000083HP:0003774Stage 5 chronic kidney disease2ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0000083HP:0003774Stage 5 chronic kidney disease2ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2ANKS6 CL E G H20328626724OMIM:615382Nephronophthisis 1632
HP:0000083HP:0003774Stage 5 chronic kidney disease2ANLN CL E G H5444314082OMIM:616032Focal segmental glomerulosclerosis 8.6
HP:0000083HP:0003774Stage 5 chronic kidney disease2ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent6
HP:0000083HP:0003774Stage 5 chronic kidney disease2APOL1 CL E G H8542618OMIM:612551Focal segmental glomerulosclerosis 4, susceptibility to.3
HP:0000083HP:0003774Stage 5 chronic kidney disease2APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000083HP:0003774Stage 5 chronic kidney disease2APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiencyHP:0040283 - Occasional19
HP:0000083HP:0003774Stage 5 chronic kidney disease2ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000083HP:0003774Stage 5 chronic kidney disease2ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000083HP:0003774Stage 5 chronic kidney disease2AVIL CL E G H1067714188OMIM:618594NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000083HP:0003774Stage 5 chronic kidney disease2BBIP1 CL E G H9248228093OMIM:615995Bardet-Biedl syndrome 181
HP:0000083HP:0003774Stage 5 chronic kidney disease2BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent5
HP:0000083HP:0003774Stage 5 chronic kidney disease2BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040283 - Occasional22
HP:0000083HP:0003774Stage 5 chronic kidney disease2BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional53
HP:0000083HP:0003774Stage 5 chronic kidney disease2C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 592
HP:0000083HP:0003774Stage 5 chronic kidney disease2CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0000083HP:0003774Stage 5 chronic kidney disease2CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0000083HP:0003774Stage 5 chronic kidney disease2CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent105
HP:0000083HP:0003774Stage 5 chronic kidney disease2CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0000083HP:0003774Stage 5 chronic kidney disease2CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent34
HP:0000083HP:0003774Stage 5 chronic kidney disease2CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0000083HP:0003774Stage 5 chronic kidney disease2CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent342
HP:0000083HP:0003774Stage 5 chronic kidney disease2CEP290 CL E G H8018429021OMIM:610189Senior-Loken syndrome 6.342
HP:0000083HP:0003774Stage 5 chronic kidney disease2CEP83 CL E G H5113417966OMIM:615862Nephronophthisis 18.10
HP:0000083HP:0003774Stage 5 chronic kidney disease2CFHR5 CL E G H8149424668OMIM:614809Cfhr5 deficiency.47
HP:0000083HP:0012624Stage 2 chronic kidney disease2CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0000083HP:0003774Stage 5 chronic kidney disease2CLCN5 CL E G H11842023OMIM:300009Dent disease 1112
HP:0000083HP:0003774Stage 5 chronic kidney disease2CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional9
HP:0000083HP:0003774Stage 5 chronic kidney disease2CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional27
HP:0000083HP:0003774Stage 5 chronic kidney disease2COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0000083HP:0003774Stage 5 chronic kidney disease2COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0000083HP:0003774Stage 5 chronic kidney disease2COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent161
HP:0000083HP:0003774Stage 5 chronic kidney disease2COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0000083HP:0003774Stage 5 chronic kidney disease2COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0000083HP:0003774Stage 5 chronic kidney disease2COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0000083HP:0003774Stage 5 chronic kidney disease2COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0000083HP:0003774Stage 5 chronic kidney disease2COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 639
HP:0000083HP:0003774Stage 5 chronic kidney disease2COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent35
HP:0000083HP:0003774Stage 5 chronic kidney disease2COQ8B CL E G H7993419041OMIM:615573Nephrotic syndrome, type 9.35
HP:0000083HP:0003774Stage 5 chronic kidney disease2CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic formHP:0040283 - Occasional101
HP:0000083HP:0003774Stage 5 chronic kidney disease2CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent12
HP:0000083HP:0003774Stage 5 chronic kidney disease2CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type.178
HP:0000083HP:0003774Stage 5 chronic kidney disease2CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000083HP:0003774Stage 5 chronic kidney disease2CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040283 - Occasional178
HP:0000083HP:0003774Stage 5 chronic kidney disease2DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 19.8
HP:0000083HP:0003774Stage 5 chronic kidney disease2DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000083HP:0003774Stage 5 chronic kidney disease2DGKE CL E G H85262852OMIM:615008Nephrotic syndrome, type 7HP:0040283 - Occasional17
HP:0000083HP:0003774Stage 5 chronic kidney disease2DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver diseaseHP:0040284 - Very rare
HP:0000083HP:0003774Stage 5 chronic kidney disease2DSTYK CL E G H2577829043OMIM:610805Congenital anomalies of kidney and urinary tract, susceptibility to.13
HP:0000083HP:0003774Stage 5 chronic kidney disease2DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0000083HP:0003774Stage 5 chronic kidney disease2DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 5.4
HP:0000083HP:0003774Stage 5 chronic kidney disease2EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional2
HP:0000083HP:0003774Stage 5 chronic kidney disease2EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000083HP:0003774Stage 5 chronic kidney disease2FAN1 CL E G H2290929170OMIM:614817Interstitial nephritis, karyomegalic.15
HP:0000083HP:0003774Stage 5 chronic kidney disease2FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 2.9
HP:0000083HP:0003774Stage 5 chronic kidney disease2GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent6
HP:0000083HP:0003774Stage 5 chronic kidney disease2GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional86
HP:0000083HP:0003774Stage 5 chronic kidney disease2GLIS2 CL E G H8466229450OMIM:611498NEPHRONOPHTHISIS 7; NPHP783
HP:0000083HP:0003774Stage 5 chronic kidney disease2GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000083HP:0003774Stage 5 chronic kidney disease2GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040284 - Very rare53
HP:0000083HP:0003774Stage 5 chronic kidney disease2HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndromeHP:0040282 - Frequent90
HP:0000083HP:0003774Stage 5 chronic kidney disease2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0000083HP:0003774Stage 5 chronic kidney disease2IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000083HP:0012623Stage 1 chronic kidney disease2IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0000083HP:0003774Stage 5 chronic kidney disease2IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent148
HP:0000083HP:0003774Stage 5 chronic kidney disease2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0000083HP:0003774Stage 5 chronic kidney disease2IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3HP:0040283 - Occasional11
HP:0000083HP:0003774Stage 5 chronic kidney disease2INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate EHP:0040283 - Occasional135
HP:0000083HP:0003774Stage 5 chronic kidney disease2INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0000083HP:0003774Stage 5 chronic kidney disease2INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent135
HP:0000083HP:0003774Stage 5 chronic kidney disease2INVS CL E G H2713017870OMIM:602088Nephronophthisis 2.HP:0011463 - Childhood onset106
HP:0000083HP:0003774Stage 5 chronic kidney disease2INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent106
HP:0000083HP:0003774Stage 5 chronic kidney disease2IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0000083HP:0003774Stage 5 chronic kidney disease2IQCB1 CL E G H965728949OMIM:609254Senior-Loken syndrome 5.61
HP:0000083HP:0003774Stage 5 chronic kidney disease2JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000083HP:0003774Stage 5 chronic kidney disease2LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linkedHP:0040284 - Very rare
HP:0000083HP:0003774Stage 5 chronic kidney disease2LAMA5 CL E G H39116485OMIM:6200495
HP:0000083HP:0003774Stage 5 chronic kidney disease2LAMB2 CL E G H39136487OMIM:614199Nephrotic syndrome, type 5, with or without ocular abnormalities92
HP:0000083HP:0003774Stage 5 chronic kidney disease2LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.HP:0003593 - Infantile onset92
HP:0000083HP:0003774Stage 5 chronic kidney disease2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0000083HP:0003774Stage 5 chronic kidney disease2LMX1B CL E G H40106654OMIM:256020NAIL-PATELLA-LIKE RENAL DISEASE165
HP:0000083HP:0003774Stage 5 chronic kidney disease2LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000083HP:0003774Stage 5 chronic kidney disease2MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0000083HP:0003774Stage 5 chronic kidney disease2MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent59
HP:0000083HP:0003774Stage 5 chronic kidney disease2MAGI2 CL E G H986318957OMIM:617609Nephrotic syndrome, type 15HP:0040284 - Very rare59
HP:0000083HP:0003774Stage 5 chronic kidney disease2MAPKBP1 CL E G H2300529536OMIM:617271Nephronophthisis 20.6
HP:0000083HP:0003774Stage 5 chronic kidney disease2MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0000083HP:0003774Stage 5 chronic kidney disease2MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0000083HP:0003774Stage 5 chronic kidney disease2MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0000083HP:0003774Stage 5 chronic kidney disease2MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000083HP:0003774Stage 5 chronic kidney disease2MYOCD CL E G H9364916067OMIM:618719MEGABLADDER, CONGENITAL; MGBL3
HP:0000083HP:0003774Stage 5 chronic kidney disease2NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0000083HP:0003774Stage 5 chronic kidney disease2NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional39
HP:0000083HP:0003774Stage 5 chronic kidney disease2NEK8 CL E G H28408613387OMIM:613824NEPHRONOPHTHISIS 9; NPHP943
HP:0000083HP:0003774Stage 5 chronic kidney disease2NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0000083HP:0003774Stage 5 chronic kidney disease2NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 485
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP1 CL E G H48677905OMIM:256100Nephronophthisis 1.85
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent85
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 1.85
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP3 CL E G H270317907OMIM:604387Nephronophthisis 3157
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent157
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP4 CL E G H26173419104OMIM:606966Nephronophthisis 4.220
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent220
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHP4 CL E G H26173419104OMIM:606996Senior-Loken syndrome 4.220
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent241
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent69
HP:0000083HP:0003774Stage 5 chronic kidney disease2NPHS2 CL E G H782713394OMIM:600995Nephrotic syndrome, type 2.69
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP133 CL E G H5574618016OMIM:618177NEPHROTIC SYNDROME, TYPE 18; NPHS181
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP205 CL E G H2316518658OMIM:616893NEPHROTIC SYNDROME, TYPE 13; NPHS131
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP85 CL E G H799028734OMIM:618176Nephrotic syndrome, type 17.
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000083HP:0003774Stage 5 chronic kidney disease2NUP93 CL E G H968828958OMIM:616892Nephrotic syndrome, type 12.5
HP:0000083HP:0003774Stage 5 chronic kidney disease2OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000083HP:0003774Stage 5 chronic kidney disease2PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 7HP:0040283 - Occasional39
HP:0000083HP:0003774Stage 5 chronic kidney disease2PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent39
HP:0000083HP:0003774Stage 5 chronic kidney disease2PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000083HP:0003774Stage 5 chronic kidney disease2PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent342
HP:0000083HP:0003774Stage 5 chronic kidney disease2PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040282 - Frequent106
HP:0000083HP:0012623Stage 1 chronic kidney disease2PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000083HP:0003774Stage 5 chronic kidney disease2PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0000083HP:0003774Stage 5 chronic kidney disease2PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent118
HP:0000083HP:0003774Stage 5 chronic kidney disease2PLCE1 CL E G H5119617175OMIM:610725Nephrotic syndrome, type 3.118
HP:0000083HP:0012625Stage 3 chronic kidney disease2POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000083HP:0003774Stage 5 chronic kidney disease2PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0000083HP:0012626Stage 4 chronic kidney disease2PRPS1 CL E G H56319462ORPHA:411536Mild phosphoribosylpyrophosphate synthetase superactivityHP:0040283 - Occasional49
HP:0000083HP:0003774Stage 5 chronic kidney disease2PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent2
HP:0000083HP:0003774Stage 5 chronic kidney disease2RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0000083HP:0003774Stage 5 chronic kidney disease2RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000083HP:0003774Stage 5 chronic kidney disease2RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0000083HP:0003774Stage 5 chronic kidney disease2RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0000083HP:0003774Stage 5 chronic kidney disease2RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000083HP:0003774Stage 5 chronic kidney disease2SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0000083HP:0003774Stage 5 chronic kidney disease2SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000083HP:0012625Stage 3 chronic kidney disease2SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000083HP:0003774Stage 5 chronic kidney disease2SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional47
HP:0000083HP:0003774Stage 5 chronic kidney disease2SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040284 - Very rare110
HP:0000083HP:0003774Stage 5 chronic kidney disease2SLC41A1 CL E G H25442819429OMIM:619468NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0000083HP:0003774Stage 5 chronic kidney disease2SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0000083HP:0003774Stage 5 chronic kidney disease2SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000083HP:0003774Stage 5 chronic kidney disease2SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0000083HP:0003774Stage 5 chronic kidney disease2SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0000083HP:0003774Stage 5 chronic kidney disease2SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040284 - Very rare138
HP:0000083HP:0003774Stage 5 chronic kidney disease2TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000083HP:0003774Stage 5 chronic kidney disease2TBC1D8B CL E G H5488524715OMIM:301028Nephrotic syndrome, type 20.1
HP:0000083HP:0003774Stage 5 chronic kidney disease2TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 29.4
HP:0000083HP:0003774Stage 5 chronic kidney disease2TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0000083HP:0003774Stage 5 chronic kidney disease2TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0000083HP:0003774Stage 5 chronic kidney disease2TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0000083HP:0003774Stage 5 chronic kidney disease2TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000083HP:0003774Stage 5 chronic kidney disease2TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000083HP:0003774Stage 5 chronic kidney disease2TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0000083HP:0003774Stage 5 chronic kidney disease2TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5HP:0040284 - Very rare
HP:0000083HP:0003774Stage 5 chronic kidney disease2TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent6
HP:0000083HP:0003774Stage 5 chronic kidney disease2TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 9.6
HP:0000083HP:0003774Stage 5 chronic kidney disease2TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2.107
HP:0000083HP:0003774Stage 5 chronic kidney disease2TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent107
HP:0000083HP:0003774Stage 5 chronic kidney disease2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0000083HP:0003774Stage 5 chronic kidney disease2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0000083HP:0003774Stage 5 chronic kidney disease2TTC21B CL E G H7980925660OMIM:613820Nephronophthisis 12132
HP:0000083HP:0003774Stage 5 chronic kidney disease2TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly.132
HP:0000083HP:0003774Stage 5 chronic kidney disease2TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000083HP:0003774Stage 5 chronic kidney disease2WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4HP:0040283 - Occasional95
HP:0000083HP:0003774Stage 5 chronic kidney disease2WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 13.95
HP:0000083HP:0003774Stage 5 chronic kidney disease2WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent95
HP:0000083HP:0003774Stage 5 chronic kidney disease2WDR19 CL E G H5772818340OMIM:616307Senior-Loken syndrome 895
HP:0000083HP:0003774Stage 5 chronic kidney disease2WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0000083HP:0003774Stage 5 chronic kidney disease2WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome.177
HP:0000083HP:0003774Stage 5 chronic kidney disease2WT1 CL E G H749012796OMIM:136680Frasier syndrome177
HP:0000083HP:0003774Stage 5 chronic kidney disease2WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent177
HP:0000083HP:0003774Stage 5 chronic kidney disease2XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1.109
HP:0000083HP:0003774Stage 5 chronic kidney disease2YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000083HP:0003774Stage 5 chronic kidney disease2ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83


Genes (392) :ABCA12 ACP5 ACSL4 ACTN4 AGXT AHI1 ALDH4A1 ALDOA ALDOB ALG1 ALG5 ALG9 ALMS1 ALOX12B ALOXE3 AMMECR1 ANKFY1 ANKS6 ANLN AP2S1 APC2 APOE APOL1 APRT AQP2 ARHGAP24 ARHGDIA ASPRV1 AVIL AVPR2 B2M BAZ1B BBIP1 BBS10 BBS9 BCL7B BICC1 BNC2 BRCA1 BRCA2 BRD4 BRIP1 BSND BTNL2 BUD23 C3 C4A CACNA1S CASP10 CAV1 CC2D2A CCN2 CCND1 CCNQ CCR1 CCR6 CD151 CD2AP CD46 CD81 CDC73 CEP120 CEP164 CEP290 CEP83 CFB CFH CFHR1 CFHR3 CFHR5 CFI CHD4 CHRM3 CHRNA3 CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 CLPB COG1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 COQ6 COQ8B CORIN COX1 COX3 CPT2 CRB2 CSPP1 CTLA4 CTNS CYP4F22 DAAM2 DACT1 DCDC2 DGKE DHDDS DNAJB11 DNAJC30 DNASE1L3 DSTYK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EHHADH EHMT1 EIF2AK3 EIF4H ELN ELP1 EMP2 ERAP1 ERCC4 ERCC6 ERCC8 EYA1 FAH FAM20A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FKBP6 FLT1 FN1 FUZ FXYD2 GANAB GAPVD1 GATA3 GATM GCDH GCM2 GLA GLIS2 GON7 GPR35 GRHPR GSN GTF2I GTF2IRD1 GTF2IRD2 HBB HDAC8 HELLPAR HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HNF1B HOXA13 HPRT1 HPS1 HPSE2 HRAS HSD11B2 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT80 IKZF1 IL10 IL12A IL12A-AS1 IL23R INF2 INPP5E INVS IQCB1 IRAK1 IRF5 ITGA3 JAG1 KARS1 KCNE5 KCTD1 KIAA0586 KLRC4 KYNU LAGE3 LAMA5 LAMB2 LCAT LDHA LEMD3 LHX1 LIMK1 LIPN LMX1B LPIN1 LRIG2 LZTFL1 MAD2L2 MAFB MAGI2 MAPKBP1 MDM2 MED12 MEFV MEN1 METTL27 MLXIPL MMACHC MME MMP1 MMUT MOCOS MST1 MUC1 MYCN MYD88 MYH9 MYO1E MYOCD NCF1 NDUFAF6 NEK8 NFS1 NIPAL4 NIPBL NLRP3 NOD2 NOS1AP NOTCH2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NSD1 NTRK1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCLN OCRL OFD1 OSGEP P4HA2 PALB2 PAX2 PAX6 PBX1 PEX7 PGAM2 PGK1 PHYH PIGA PKD1 PKD2 PKDCC PKHD1 PLCE1 PNPLA6 POLRMT PPOX PRDX1 PRKCD PRPS1 PRTN3 PTPN22 PTPRO PUS3 PYGM RAD21 RAD51 RAD51C RASGRP1 REN RFC2 RFWD3 RMND1 RNU7-1 RPGRIP1L RRM2B RYR1 SAA1 SALL1 SARS2 SCARB2 SCNN1A SCNN1B SCNN1G SDCCAG8 SDR9C7 SEC61A1 SEMA4D SETD2 SGPL1 SH2B1 SHPK SIX1 SIX5 SLC22A12 SLC26A1 SLC2A9 SLC30A9 SLC34A1 SLC37A4 SLC3A1 SLC41A1 SLC5A1 SLC7A7 SLC7A9 SLX4 SMARCAL1 SMC1A SMC3 SOX18 SPP1 SPRY2 SRCAP STAT2 STAT4 STOX1 STS STX1A SULT2B1 TBC1D8B TBL2 TBX1 TBX18 TCF4 TCN2 TGM1 THBD TLR4 TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TP53RK TPRKB TRAF3IP1 TRNE TRNK TRNL1 TRNT TRPC6 TSC1 TSC2 TTC21B TTC26 UBAC2 UBE2T UMOD VANGL1 VPS37D WDR19 WDR35 WDR73 WT1 XPNPEP3 XRCC2 YRDC ZMPSTE24 ZNF423 ZNF592 ZNF699 ZNFX1

Diseases (347) :ORPHA:313 ORPHA:1855 ORPHA:86818 OMIM:603278 ORPHA:656 OMIM:259900 ORPHA:93598 OMIM:608629 ORPHA:79101 ORPHA:57 ORPHA:469 ORPHA:79327 OMIM:620056 ORPHA:730 ORPHA:64 OMIM:203800 OMIM:615382 OMIM:616032 OMIM:600740 ORPHA:821 OMIM:611771 OMIM:612551 OMIM:614723 ORPHA:976 ORPHA:223 OMIM:615244 OMIM:618594 ORPHA:314652 ORPHA:904 OMIM:615995 OMIM:615987 OMIM:615986 OMIM:601331 ORPHA:93110 ORPHA:84 ORPHA:199 OMIM:602522 ORPHA:89938 ORPHA:797 OMIM:613779 OMIM:612925 ORPHA:117 ORPHA:423 ORPHA:3261 ORPHA:220393 OMIM:612285 ORPHA:1454 ORPHA:2318 ORPHA:29073 ORPHA:140952 OMIM:609057 OMIM:607832 ORPHA:244242 OMIM:612922 OMIM:613496 ORPHA:99879 ORPHA:99880 ORPHA:143 ORPHA:474 ORPHA:3156 OMIM:615991 OMIM:610188 OMIM:610189 OMIM:615862 OMIM:612924 OMIM:609814 OMIM:235400 OMIM:614809 OMIM:610984 OMIM:612923 OMIM:617159 ORPHA:2970 OMIM:191800 OMIM:300009 OMIM:300554 OMIM:310468 OMIM:308990 OMIM:613090 OMIM:617671 OMIM:248250 OMIM:248190 ORPHA:445038 OMIM:611209 OMIM:611773 ORPHA:73229 OMIM:104200 OMIM:203780 OMIM:301050 ORPHA:1018 ORPHA:79408 OMIM:614650 OMIM:615573 ORPHA:275555 ORPHA:99845 ORPHA:228302 ORPHA:228308 OMIM:608836 OMIM:255110 OMIM:219730 ORPHA:397715 ORPHA:900 OMIM:219900 OMIM:219800 ORPHA:411634 ORPHA:857 OMIM:616217 ORPHA:84081 OMIM:615008 OMIM:613861 OMIM:618061 ORPHA:36412 OMIM:610805 ORPHA:731 OMIM:617610 ORPHA:3337 ORPHA:96147 OMIM:226980 ORPHA:1667 OMIM:194050 ORPHA:1764 ORPHA:90321 OMIM:610965 ORPHA:90324 OMIM:133540 OMIM:216400 ORPHA:107 OMIM:276700 OMIM:204690 ORPHA:1031 OMIM:614817 ORPHA:84090 OMIM:601894 ORPHA:3027 OMIM:154020 OMIM:146255 ORPHA:2237 OMIM:134600 ORPHA:25 ORPHA:324 OMIM:301500 OMIM:611498 OMIM:619603 ORPHA:171 OMIM:260000 ORPHA:93599 ORPHA:85448 OMIM:105120 OMIM:603903 ORPHA:397 ORPHA:36426 ORPHA:79276 ORPHA:261265 ORPHA:93111 OMIM:137920 OMIM:140000 OMIM:300323 ORPHA:79233 ORPHA:510 OMIM:203300 ORPHA:2704 OMIM:218040 ORPHA:320 ORPHA:805 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:615996 OMIM:614099 OMIM:614455 OMIM:613237 OMIM:602088 OMIM:609254 ORPHA:93552 OMIM:614748 OMIM:118450 OMIM:619147 OMIM:181270 OMIM:617661 OMIM:301006 OMIM:620049 OMIM:614199 OMIM:609049 OMIM:245900 ORPHA:284426 OMIM:612933 ORPHA:1306 OMIM:161200 ORPHA:2614 ORPHA:2613 OMIM:256020 OMIM:268200 OMIM:615112 OMIM:615994 OMIM:166300 OMIM:617609 OMIM:617271 OMIM:618681 OMIM:301068 OMIM:249100 OMIM:134610 ORPHA:79282 OMIM:277400 ORPHA:69063 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:603592 OMIM:174000 ORPHA:391641 ORPHA:33226 ORPHA:182050 OMIM:614131 OMIM:618719 OMIM:618913 OMIM:613824 OMIM:619386 OMIM:191900 ORPHA:90340 OMIM:619155 OMIM:610205 OMIM:609583 ORPHA:220497 OMIM:256100 OMIM:266900 OMIM:267010 OMIM:604387 OMIM:208540 OMIM:606966 OMIM:606996 OMIM:256300 OMIM:600995 ORPHA:642 OMIM:618348 OMIM:616730 OMIM:618177 OMIM:618178 OMIM:616893 OMIM:618176 OMIM:616892 OMIM:251290 OMIM:300555 OMIM:309000 ORPHA:534 ORPHA:2750 OMIM:617729 OMIM:616002 OMIM:120330 ORPHA:1475 ORPHA:97362 OMIM:194072 OMIM:617641 ORPHA:773 OMIM:261670 ORPHA:713 OMIM:300653 ORPHA:447 OMIM:173900 OMIM:613095 OMIM:618821 OMIM:263200 OMIM:610725 ORPHA:2377 OMIM:619743 ORPHA:79473 OMIM:615559 ORPHA:411536 OMIM:300661 ORPHA:411543 ORPHA:488627 ORPHA:368 OMIM:613390 OMIM:613092 OMIM:614922 OMIM:619487 OMIM:619113 OMIM:611560 OMIM:268315 ORPHA:466650 ORPHA:85445 OMIM:107480 OMIM:613845 OMIM:254900 ORPHA:526 OMIM:177200 OMIM:615993 OMIM:617056 OMIM:617575 ORPHA:261222 ORPHA:440713 OMIM:610896 ORPHA:94088 OMIM:220150 OMIM:167030 OMIM:617595 OMIM:613388 ORPHA:79259 OMIM:232240 OMIM:220100 OMIM:619468 ORPHA:35710 OMIM:222700 OMIM:242900 ORPHA:1830 OMIM:137940 OMIM:616818 ORPHA:2044 OMIM:618886 ORPHA:281090 OMIM:301028 OMIM:188400 OMIM:143400 ORPHA:859 OMIM:612926 OMIM:618250 OMIM:608091 ORPHA:2752 OMIM:617478 OMIM:216360 OMIM:610688 OMIM:613550 OMIM:602152 OMIM:617730 OMIM:617731 OMIM:616629 ORPHA:225 ORPHA:254857 OMIM:603965 OMIM:613820 OMIM:613819 OMIM:619534 OMIM:162000 OMIM:614378 OMIM:614377 OMIM:616307 OMIM:614376 OMIM:613610 ORPHA:83472 OMIM:251300 OMIM:194080 ORPHA:347 OMIM:136680 OMIM:256370 OMIM:613159 OMIM:619609 OMIM:608612 OMIM:619488 OMIM:619644
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.