Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | HP:0040283 - Occasional | | | 27 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | HP:0040283 - Occasional | | | 260 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 93 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | | | | 32 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | . | | | 6 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | APOL1 CL E G H | 8542 | 618 | OMIM:612551 | Focal segmental glomerulosclerosis 4, susceptibility to | . | | | 3 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | AVIL CL E G H | 10677 | 14188 | OMIM:618594 | NEPHROTIC SYNDROME, TYPE 21; NPHS21 | | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | BBIP1 CL E G H | 92482 | 28093 | OMIM:615995 | Bardet-Biedl syndrome 18 | | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 5 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040283 - Occasional | | | 22 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 53 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CD151 CL E G H | 977 | 1630 | OMIM:609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 105 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610189 | Senior-Loken syndrome 6 | . | | | 342 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CEP83 CL E G H | 51134 | 17966 | OMIM:615862 | Nephronophthisis 18 | . | | | 10 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | . | | | 47 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | | | | 112 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 9 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 27 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 678 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 18 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | | | | 39 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | . | | | 35 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040283 - Occasional | | | 101 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | . | | | 178 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | . | | | 8 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | HP:0040283 - Occasional | | | 17 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | HP:0040284 - Very rare | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | . | | | 13 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | . | | | 4 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | . | | | 9 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 6 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | GLIS2 CL E G H | 84662 | 29450 | OMIM:611498 | NEPHRONOPHTHISIS 7; NPHP7 | | | | 83 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040284 - Very rare | | | 53 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 23 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 148 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | HP:0040283 - Occasional | | | 135 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | HP:0011463 - Childhood onset | | 106 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | IQCB1 CL E G H | 9657 | 28949 | OMIM:609254 | Senior-Loken syndrome 5 | . | | | 61 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | HP:0040284 - Very rare | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620049 | | | | | 5 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:614199 | Nephrotic syndrome, type 5, with or without ocular abnormalities | | | | 92 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | HP:0003593 - Infantile onset | | 92 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | | | | 63 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | HP:0040284 - Very rare | | | 59 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NOS1AP CL E G H | 9722 | 16859 | OMIM:619155 | NEPHROTIC SYNDROME, TYPE 22; NPHS22 | | | | 4 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | . | | | 85 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | . | | | 85 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | | | | 157 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | . | | | 220 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 220 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 241 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | . | | | 69 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP205 CL E G H | 23165 | 18658 | OMIM:616893 | NEPHROTIC SYNDROME, TYPE 13; NPHS13 | | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | . | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | . | | | 5 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | HP:0040283 - Occasional | | | 39 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 342 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 106 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | . | | | 391 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040284 - Very rare | | | 110 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TBC1D8B CL E G H | 54885 | 24715 | OMIM:301028 | Nephrotic syndrome, type 20 | . | | | 1 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | HP:0040284 - Very rare | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | . | | | 6 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TRPC6 CL E G H | 7225 | 12338 | OMIM:603965 | Focal segmental glomerulosclerosis 2 | . | | | 107 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 1090 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 2738 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613820 | Nephronophthisis 12 | | | | 132 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613819 | Short-Rib thoracic dysplasia 4 with or without polydactyly | . | | | 132 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | HP:0040283 - Occasional | | | 95 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | . | | | 95 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | | | | 95 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | . | | | 109 | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0003774 | HP:0003774 | Stage 5 chronic kidney disease | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |