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:0000083 | HP:0000083 | Renal insufficiency | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | | | | 16 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | | | | 27 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 27 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | . | | | 260 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | | | | 260 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040283 - Occasional | | | 73 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040283 - Occasional | | | 58 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 93 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 75 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 63 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | . | | | 32 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | HP:0040283 - Occasional | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | APOE CL E G H | 348 | 613 | OMIM:611771 | LIPOPROTEIN GLOMERULOPATHY; LPG | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | APOL1 CL E G H | 8542 | 618 | OMIM:612551 | Focal segmental glomerulosclerosis 4, susceptibility to | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | . | | | 19 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040282 - Frequent | | | 19 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040283 - Occasional | | | 75 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AVIL CL E G H | 10677 | 14188 | OMIM:618594 | NEPHROTIC SYNDROME, TYPE 21; NPHS21 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040283 - Occasional | | | 67 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | B2M CL E G H | 567 | 914 | ORPHA:314652 | Variant ABeta2M amyloidosis | | | | 8 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BBIP1 CL E G H | 92482 | 28093 | OMIM:615995 | Bardet-Biedl syndrome 18 | . | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BBS10 CL E G H | 79738 | 26291 | OMIM:615987 | Bardet-Biedl syndrome 10 | . | | | 118 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BICC1 CL E G H | 80114 | 19351 | OMIM:601331 | Renal dysplasia, cystic, susceptibility to | . | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040283 - Occasional | | | 22 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | . | | | 92 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 11 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 247 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CD151 CL E G H | 977 | 1630 | OMIM:609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CD2AP CL E G H | 23607 | 14258 | OMIM:607832 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 | | | | 105 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 105 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040283 - Occasional | | | 169 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040283 - Occasional | | | 169 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | | | | 34 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:615991 | Bardet-Biedl syndrome 14 | | | | 342 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 342 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | | | | 342 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610189 | Senior-Loken syndrome 6 | | | | 342 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CEP83 CL E G H | 51134 | 17966 | OMIM:615862 | Nephronophthisis 18 | | | | 10 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | | | | 30 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFH CL E G H | 3075 | 4883 | OMIM:609814 | Complement factor H deficiency | | | | 86 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | | | | 86 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | 86 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | . | | | 47 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | | | | 57 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | | | | 57 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | . | HP:0003581 - Adult onset | | 112 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | HP:0003581 - Adult onset | | 112 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:310468 | Nephrolithiasis, type I | . | HP:0003581 - Adult onset | | 112 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | . | | | 112 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | . | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | | | | 42 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040283 - Occasional | | | 38 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:73229 | HANAC syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 161 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 35 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | | | | 35 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040283 - Occasional | | | 101 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | . | | | 101 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 12 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CRB2 CL E G H | 286204 | 18688 | OMIM:219730 | Ventriculomegaly with cystic kidney disease | . | | | 12 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | | | | 178 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 54 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | | | | 8 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | | | | 17 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | . | | | 47 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | . | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | | | | 13 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | . | | | 172 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040283 - Occasional | | | 133 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | . | | | 16 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | | | | 15 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | | | | 11 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:84090 | Fibronectin glomerulopathy | HP:0040281 - Very frequent | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | . | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | HP:0040283 - Occasional | | | 17 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GATM CL E G H | 2628 | 4175 | OMIM:134600 | Fanconi renotubular syndrome 1 | . | | | 86 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | | | | 115 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040283 - Occasional | | | 51 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GLIS2 CL E G H | 84662 | 29450 | OMIM:611498 | NEPHRONOPHTHISIS 7; NPHP7 | | | | 83 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GRHPR CL E G H | 9380 | 4570 | OMIM:260000 | Hyperoxaluria, primary, type II | HP:0040283 - Occasional | | | 70 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GRHPR CL E G H | 9380 | 4570 | ORPHA:93599 | Primary hyperoxaluria type 2 | HP:0040283 - Occasional | | | 70 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GSN CL E G H | 2934 | 4620 | OMIM:105120 | Amyloidosis, Finnish type | . | | | 53 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040282 - Frequent | | | 81 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040281 - Very frequent | | | 90 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300323 | Gout, hprt-related | . | | | 76 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:510 | Lesch-Nyhan syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HPSE2 CL E G H | 60495 | 18374 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040283 - Occasional | | | 14 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 23 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 148 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT27 CL E G H | 11020 | 18626 | OMIM:615996 | Bardet-Biedl syndrome 19 | . | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | | | | 11 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | | | | 135 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 135 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | | | | 106 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | | | | 61 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IQCB1 CL E G H | 9657 | 28949 | OMIM:609254 | Senior-Loken syndrome 5 | | | | 61 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040283 - Occasional | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620049 | | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:614199 | Nephrotic syndrome, type 5, with or without ocular abnormalities | | | | 92 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:245900 | Lecithin:cholesterol acyltransferase deficiency | . | | | 26 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2613 | Nail-patella-like renal disease | HP:0040281 - Very frequent | | | 165 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LRIG2 CL E G H | 9860 | 20889 | ORPHA:2704 | Ochoa syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LRIG2 CL E G H | 9860 | 20889 | OMIM:615112 | Urofacial syndrome 2 | . | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | . | | | 63 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 59 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | | | | 59 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040283 - Occasional | | | 462 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | . | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MME CL E G H | 4311 | 7154 | ORPHA:69063 | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization | HP:0040282 - Frequent | | | 18 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | HP:0040283 - Occasional | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040283 - Occasional | | | 35 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | HP:0040282 - Frequent | | | 297 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 60 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NOS1AP CL E G H | 9722 | 16859 | OMIM:619155 | NEPHROTIC SYNDROME, TYPE 22; NPHS22 | | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | | | | 138 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 85 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | | | | 85 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | | | | 85 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | . | HP:0011462 - Young adult onset | | 157 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | | | | 157 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | | | | 220 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | | | | 220 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | | | | 220 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 241 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | . | | | 241 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 69 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | | | | 69 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP160 CL E G H | 23279 | 18017 | OMIM:618178 | Nephrotic syndrome, type 19 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP205 CL E G H | 23165 | 18658 | OMIM:616893 | NEPHROTIC SYNDROME, TYPE 13; NPHS13 | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | HP:0040283 - Occasional | | | 23 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 194 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | HP:0040284 - Very rare | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040283 - Occasional | | | 72 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040283 - Occasional | | | 21 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | HP:0040283 - Occasional | | | 21 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040283 - Occasional | | | 45 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 342 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PKD1 CL E G H | 5310 | 9008 | OMIM:173900 | Polycystic kidneys | . | | | 342 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 118 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | | | | 118 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040282 - Frequent | | | 103 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | | | | 41 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | HP:0040283 - Occasional | | | 49 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | . | | | 49 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | HP:0040282 - Frequent | | | 49 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | | | | 391 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | | | | 25 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 167 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | | | | 60 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | . | | | 61 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | | | | 61 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SIX5 CL E G H | 147912 | 10891 | OMIM:610896 | Branchiootorenal syndrome 2 | . | | | 10 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC26A1 CL E G H | 10861 | 10993 | OMIM:167030 | Nephrolithiasis, calcium oxalate | | | | 24 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | . | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:613388 | Fanconi renotubular syndrome 2 | . | | | 47 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC3A1 CL E G H | 6519 | 11025 | OMIM:220100 | CYSTINURIA | . | | | 55 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | HP:0040283 - Occasional | | | 74 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | | | | 104 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLC7A9 CL E G H | 11136 | 11067 | OMIM:220100 | CYSTINURIA | . | | | 58 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | HP:0040283 - Occasional | | | 19 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TBC1D8B CL E G H | 54885 | 24715 | OMIM:301028 | Nephrotic syndrome, type 20 | | | | 1 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | HP:0040283 - Occasional | | | 5 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | | | | 57 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | | | | 60 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 39 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 45 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 33 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040283 - Occasional | | | 82 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | . | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:615991 | Bardet-Biedl syndrome 14 | | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | | | | 6 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRPC6 CL E G H | 7225 | 12338 | OMIM:603965 | Focal segmental glomerulosclerosis 2 | | | | 107 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 107 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 1090 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 2738 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613820 | Nephronophthisis 12 | | | | 132 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613819 | Short-Rib thoracic dysplasia 4 with or without polydactyly | | | | 132 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | . | | | 66 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 111 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:83472 | CAMOS syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | | | | 177 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 177 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:256370 | Nephrotic syndrome, type 4 | . | | | 177 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 177 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | | | | 109 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040283 - Occasional | | | 49 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ZNF592 CL E G H | 9640 | 28986 | ORPHA:83472 | CAMOS syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000083 | HP:0000083 | Renal insufficiency | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0000083 | HP:0004713 | Reversible renal failure | 1 | CL E G H | | | | | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040282 - Frequent | | | 16 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | | | | 27 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | | | | 260 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040283 - Occasional | | | 73 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 93 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | | | | 32 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | | | | 6 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | APOL1 CL E G H | 8542 | 618 | OMIM:612551 | Focal segmental glomerulosclerosis 4, susceptibility to | | | | 3 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040282 - Frequent | | | 19 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040282 - Frequent | | | 19 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | . | | | 3 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | AVIL CL E G H | 10677 | 14188 | OMIM:618594 | NEPHROTIC SYNDROME, TYPE 21; NPHS21 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | B2M CL E G H | 567 | 914 | ORPHA:314652 | Variant ABeta2M amyloidosis | HP:0040282 - Frequent | | | 8 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | BBIP1 CL E G H | 92482 | 28093 | OMIM:615995 | Bardet-Biedl syndrome 18 | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040281 - Very frequent | | | 22 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 53 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 53 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CD151 CL E G H | 977 | 1630 | OMIM:609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 105 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040284 - Very rare | | | 39 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610189 | Senior-Loken syndrome 6 | | | | 342 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CEP83 CL E G H | 51134 | 17966 | OMIM:615862 | Nephronophthisis 18 | | | | 10 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CFH CL E G H | 3075 | 4883 | OMIM:609814 | Complement factor H deficiency | . | | | 86 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040284 - Very rare | | | 86 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | | | | 47 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040284 - Very rare | | | 57 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | . | | | 112 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:310468 | Nephrolithiasis, type I | . | | | 112 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 9 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 9 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 27 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 27 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CLDN19 CL E G H | 149461 | 2040 | OMIM:248190 | Hypomagnesemia 5, renal, with or without ocular involvement | . | | | 42 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | | | | 161 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | | | | 161 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | | | | 174 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | | | | 678 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | | | | 35 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | | | | 101 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | | | | 178 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | | | | 8 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | . | | | 17 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | | | | 17 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | | | | 13 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | | | | 15 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | | | | 9 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 6 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 115 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GLIS2 CL E G H | 84662 | 29450 | OMIM:611498 | NEPHRONOPHTHISIS 7; NPHP7 | | | | 83 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040284 - Very rare | | | | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 148 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | | | | 11 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | | | | 135 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | IQCB1 CL E G H | 9657 | 28949 | OMIM:609254 | Senior-Loken syndrome 5 | | | | 61 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620049 | | | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LAMB2 CL E G H | 3913 | 6487 | OMIM:614199 | Nephrotic syndrome, type 5, with or without ocular abnormalities | | | | 92 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040283 - Occasional | | | 35 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040283 - Occasional | | | 35 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | | | | 63 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | | | | 59 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | | | | 6 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | . | | | 3 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NOS1AP CL E G H | 9722 | 16859 | OMIM:619155 | NEPHROTIC SYNDROME, TYPE 22; NPHS22 | | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | | | | 85 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | | | | 157 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | | | | 220 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 220 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | | | | 220 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 241 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | | | | 69 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040284 - Very rare | | | 97 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP160 CL E G H | 23279 | 18017 | OMIM:618178 | Nephrotic syndrome, type 19 | . | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP205 CL E G H | 23165 | 18658 | OMIM:616893 | NEPHROTIC SYNDROME, TYPE 13; NPHS13 | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | | | | 5 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | . | | | 88 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 342 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 106 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | | | | 118 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040284 - Very rare | | | 41 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | HP:0040283 - Occasional | | | 49 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | HP:0040283 - Occasional | | | 49 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040284 - Very rare | | | 166 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | | | | 391 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | . | | | 25 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040284 - Very rare | | | 1200 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040282 - Frequent | | | 56 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 56 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | . | | | 56 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | SLC26A1 CL E G H | 10861 | 10993 | OMIM:167030 | Nephrolithiasis, calcium oxalate | . | | | 24 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040282 - Frequent | | | 57 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 57 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | | | | 104 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TBC1D8B CL E G H | 54885 | 24715 | OMIM:301028 | Nephrotic syndrome, type 20 | | | | 1 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | HP:0040281 - Very frequent | | | 57 | | |
HP:0000083 | HP:0001919 | Acute kidney injury | 1 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | | | | 4 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | | | | 166 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | | | | 6 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TRPC6 CL E G H | 7225 | 12338 | OMIM:603965 | Focal segmental glomerulosclerosis 2 | . | | | 107 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TTC21B CL E G H | 79809 | 25660 | OMIM:613820 | Nephronophthisis 12 | | | | 132 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TTC21B CL E G H | 79809 | 25660 | OMIM:613819 | Short-Rib thoracic dysplasia 4 with or without polydactyly | | | | 132 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | | | | 95 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | | | | 95 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | | | | 177 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | | | | 109 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0000083 | HP:0012622 | Chronic kidney disease | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | HP:0040283 - Occasional | | | 27 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | HP:0040283 - Occasional | | | 260 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 93 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | | | | 32 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | . | | | 6 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | APOL1 CL E G H | 8542 | 618 | OMIM:612551 | Focal segmental glomerulosclerosis 4, susceptibility to | . | | | 3 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | AVIL CL E G H | 10677 | 14188 | OMIM:618594 | NEPHROTIC SYNDROME, TYPE 21; NPHS21 | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | BBIP1 CL E G H | 92482 | 28093 | OMIM:615995 | Bardet-Biedl syndrome 18 | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 5 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040283 - Occasional | | | 22 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 53 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CD151 CL E G H | 977 | 1630 | OMIM:609057 | NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 105 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CEP290 CL E G H | 80184 | 29021 | OMIM:610189 | Senior-Loken syndrome 6 | . | | | 342 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CEP83 CL E G H | 51134 | 17966 | OMIM:615862 | Nephronophthisis 18 | . | | | 10 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CFHR5 CL E G H | 81494 | 24668 | OMIM:614809 | Cfhr5 deficiency | . | | | 47 | | |
HP:0000083 | HP:0012624 | Stage 2 chronic kidney disease | 2 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | | | | 112 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 9 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 27 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 678 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040283 - Occasional | | | 18 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | | | | 39 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | . | | | 35 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040283 - Occasional | | | 101 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | . | | | 178 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | . | | | 8 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | HP:0040283 - Occasional | | | 17 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | HP:0040284 - Very rare | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | . | | | 13 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | . | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | . | | | 9 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 6 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | GLIS2 CL E G H | 84662 | 29450 | OMIM:611498 | NEPHRONOPHTHISIS 7; NPHP7 | | | | 83 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040284 - Very rare | | | 53 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 23 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000083 | HP:0012623 | Stage 1 chronic kidney disease | 2 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 148 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | HP:0040283 - Occasional | | | 135 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | HP:0011463 - Childhood onset | | 106 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | IQCB1 CL E G H | 9657 | 28949 | OMIM:609254 | Senior-Loken syndrome 5 | . | | | 61 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | HP:0040284 - Very rare | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620049 | | | | | 5 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | LAMB2 CL E G H | 3913 | 6487 | OMIM:614199 | Nephrotic syndrome, type 5, with or without ocular abnormalities | | | | 92 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | HP:0003593 - Infantile onset | | 92 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | | | | 63 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | HP:0040284 - Very rare | | | 59 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NOS1AP CL E G H | 9722 | 16859 | OMIM:619155 | NEPHROTIC SYNDROME, TYPE 22; NPHS22 | | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | . | | | 85 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | . | | | 85 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | | | | 157 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | . | | | 220 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 220 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 241 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | . | | | 69 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP205 CL E G H | 23165 | 18658 | OMIM:616893 | NEPHROTIC SYNDROME, TYPE 13; NPHS13 | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | . | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | NUP93 CL E G H | 9688 | 28958 | OMIM:616892 | Nephrotic syndrome, type 12 | . | | | 5 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | HP:0040283 - Occasional | | | 39 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 342 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040282 - Frequent | | | 106 | | |
HP:0000083 | HP:0012623 | Stage 1 chronic kidney disease | 2 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0000083 | HP:0012625 | Stage 3 chronic kidney disease | 2 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000083 | HP:0012626 | Stage 4 chronic kidney disease | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | HP:0040283 - Occasional | | | 49 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | . | | | 391 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:619113 | COACH SYNDROME 3; COACH3 | | | | 167 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0000083 | HP:0012625 | Stage 3 chronic kidney disease | 2 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | 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:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TBC1D8B CL E G H | 54885 | 24715 | OMIM:301028 | Nephrotic syndrome, type 20 | . | | | 1 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | HP:0040284 - Very rare | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | . | | | 6 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TRPC6 CL E G H | 7225 | 12338 | OMIM:603965 | Focal segmental glomerulosclerosis 2 | . | | | 107 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 1090 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 2738 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TTC21B CL E G H | 79809 | 25660 | OMIM:613820 | Nephronophthisis 12 | | | | 132 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TTC21B CL E G H | 79809 | 25660 | OMIM:613819 | Short-Rib thoracic dysplasia 4 with or without polydactyly | . | | | 132 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | HP:0040283 - Occasional | | | 95 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | . | | | 95 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | | | | 95 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | . | | | 109 | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0000083 | HP:0003774 | Stage 5 chronic kidney disease | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |