Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000112 | HP:0000112 | Nephropathy | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 245 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 40 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 2 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 8 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 75 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040282 - Frequent | | | 1 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 25 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 342 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | HP:0040281 - Very frequent | | | 42 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040283 - Occasional | | | 72 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 47 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 237 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040282 - Frequent | | | 291 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 161 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 138 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040282 - Frequent | | | 76 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 111 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 62 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 121 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 127 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 78 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 32 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy | HP:0040282 - Frequent | | | 63 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | HP:0040282 - Frequent | | | 297 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 32 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 85 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 55 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 194 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 30 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | PRODH CL E G H | 5625 | 9453 | ORPHA:419 | Hyperprolinemia type 1 | HP:0040282 - Frequent | | | 13 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | HP:0040283 - Occasional | | | 274 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SLC5A2 CL E G H | 6524 | 11037 | ORPHA:69076 | Familial renal glucosuria | HP:0040280 - Obligate | | | 41 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040281 - Very frequent | | | 74 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 39 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 45 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 33 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 166 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040282 - Frequent | | | 56 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85447 | ATTRV30M amyloidosis | HP:0040281 - Very frequent | | | 107 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | . | | | 66 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040282 - Frequent | | | 389 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:220 | Denys-Drash syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 177 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000112 | HP:0000112 | Nephropathy | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 49 | | |