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:0000107 | HP:0000107 | Renal cyst | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 245 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 23 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:617874 | POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3 | | | | 46 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 93 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | | | | 32 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | | | | 6 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | HP:0040283 - Occasional | | | 17 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | B9D1 CL E G H | 27077 | 24123 | OMIM:614209 | Meckel syndrome, type 9 | | | | 28 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | . | | | 34 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS10 CL E G H | 79738 | 26291 | OMIM:615987 | Bardet-Biedl syndrome 10 | . | | | 118 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS4 CL E G H | 585 | 969 | OMIM:615982 | Bardet-Biedl syndrome 4 | . | | | 87 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 5 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BICC1 CL E G H | 80114 | 19351 | OMIM:601331 | Renal dysplasia, cystic, susceptibility to | | | | 5 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 75 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | | | | 78 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | HP:0040280 - Obligate | HP:0003577 - Congenital onset | | 247 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | | | | 169 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040283 - Occasional | | | 169 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 25 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | . | | | 342 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | . | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040281 - Very frequent | | | 38 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:73229 | HANAC syndrome | | | | 193 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CRB2 CL E G H | 286204 | 18688 | OMIM:219730 | Ventriculomegaly with cystic kidney disease | | | | 12 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | HP:0040283 - Occasional | | | 57 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 304 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 37 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 27 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 77 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | | | | 135 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:135150 | Birt-Hogg-Dube syndrome | . | | | 332 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | | | | 233 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | | | | 6 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | | | | 83 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 237 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | | | | 16 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GREB1L CL E G H | 80000 | 31042 | OMIM:617805 | Renal hypodysplasia/aplasia 3 | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 161 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | | | | 90 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 138 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 148 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 65 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | HP:0040283 - Occasional | | | 111 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 62 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 127 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 78 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | | | | 125 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:617875 | Polycystic liver disease 4 with or without kidney cysts | | | | 125 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:605231 | Bardet-Biedl syndrome 6 | . | | | 69 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | | | | 69 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | | | | 32 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 5 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 418 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 326 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | | | | 43 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 32 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | HP:0040283 - Occasional | | | 494 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | . | | | 138 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | | | | 85 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | | | | 157 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3032 | NPHP3-related Meckel-like syndrome | | | | 157 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | | | | 220 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NRIP1 CL E G H | 8204 | 8001 | OMIM:618270 | Congenital anomalies of kidney and urinary tract 3 | . | | | 1 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | . | | | 39 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | | | | 39 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 55 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 30 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | | | | 65 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | | | | 77 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 342 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PKD1 CL E G H | 5310 | 9008 | OMIM:173900 | Polycystic kidneys | | | | 342 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | | | | 563 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | | | | 63 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | . | | | 63 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | . | | | 391 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | | | | 167 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SEC61A1 CL E G H | 29927 | 18276 | OMIM:617056 | Tubulointerstitial kidney disease, autosomal dominant, 5 | . | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | | | | 137 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | | | | 50 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | | | | 10 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | | | | 76 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040282 - Frequent | | | 33 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:615397 | Meckel syndrome, type 11 | | | | 33 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:140976 | RHYNS syndrome | | | | 166 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 1090 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 2738 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 136 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | | | | 136 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | | | | 109 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |
HP:0000107 | HP:0000107 | Renal cyst | 0 | ZNF423 CL E G H | 23090 | 16762 | OMIM:614844 | Nephronophthisis 14 | | | | 49 | | |
HP:0000107 | HP:0100877 | Renal diverticulum | 1 | CL E G H | | | | | | | | | | |
HP:0000107 | HP:0041050 | Renal tubular cyst | 1 | CL E G H | | | | | | | | | | |
HP:0000107 | HP:0032963 | Complex renal cyst | 1 | CL E G H | | | | | | | | | | |
HP:0000107 | HP:0012581 | Simple renal cyst | 1 | CL E G H | | | | | | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | HP:0040284 - Very rare | | | 34 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | . | | | 32 | | |
HP:0000107 | HP:0008659 | Multiple small medullary renal cysts | 1 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | HP:0040283 - Occasional | | | 6 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | B9D1 CL E G H | 27077 | 24123 | OMIM:614209 | Meckel syndrome, type 9 | . | | | 28 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 71 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 97 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000800 | Cystic renal dysplasia | 1 | BICC1 CL E G H | 80114 | 19351 | OMIM:601331 | Renal dysplasia, cystic, susceptibility to | . | | | 5 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | HP:0040281 - Very frequent | | | 78 | | |
HP:0000107 | HP:0000800 | Cystic renal dysplasia | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 247 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:73229 | HANAC syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0000107 | HP:0000800 | Cystic renal dysplasia | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | HP:0003577 - Congenital onset | | 101 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | CRB2 CL E G H | 286204 | 18688 | OMIM:219730 | Ventriculomegaly with cystic kidney disease | . | | | 12 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | . | | | 304 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | . | | | 4 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040283 - Occasional | | | 92 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040283 - Occasional | | | 233 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040281 - Very frequent | | | 353 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040281 - Very frequent | | | 263 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | . | | | 6 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 16 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | GREB1L CL E G H | 80000 | 31042 | OMIM:617805 | Renal hypodysplasia/aplasia 3 | . | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040281 - Very frequent | | | 80 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040281 - Very frequent | | | 90 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 23 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0000107 | HP:0008659 | Multiple small medullary renal cysts | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000107 | HP:0000800 | Cystic renal dysplasia | 1 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | HP:0040283 - Occasional | | | 4 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040281 - Very frequent | | | 141 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040282 - Frequent | | | 125 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040283 - Occasional | | | 3 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | . | | | 69 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | | | | 32 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | 418 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | 326 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0000107 | HP:0000800 | Cystic renal dysplasia | 1 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:256100 | Nephronophthisis 1 | . | | | 85 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:604387 | Nephronophthisis 3 | . | | | 157 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3032 | NPHP3-related Meckel-like syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606966 | Nephronophthisis 4 | . | | | 220 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | HP:0003581 - Adult onset | | 201 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | . | | | 39 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | . | | | 65 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040283 - Occasional | | | 77 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | PKD1 CL E G H | 5310 | 9008 | OMIM:173900 | Polycystic kidneys | . | | | 342 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040281 - Very frequent | | | 563 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0000107 | HP:0008659 | Multiple small medullary renal cysts | 1 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | | | | 563 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040282 - Frequent | | | 63 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 109 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 167 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040282 - Frequent | | | 137 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040284 - Very rare | | | | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0000107 | HP:0000803 | Renal cortical cysts | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000800 | Cystic renal dysplasia | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | | | | 76 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | . | | | 4 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TMEM231 CL E G H | 79583 | 37234 | OMIM:615397 | Meckel syndrome, type 11 | . | | | 33 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0008659 | Multiple small medullary renal cysts | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:613550 | NEPHRONOPHTHISIS 11; NPHP11 | | | | 166 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:140976 | RHYNS syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 1090 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 1090 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 2738 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 2738 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0000107 | HP:0005562 | Multiple renal cysts | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000107 | HP:0000108 | Renal corticomedullary cysts | 1 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | . | | | 109 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000107 | HP:0000003 | Multicystic kidney dysplasia | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000107 | HP:0000113 | Polycystic kidney dysplasia | 1 | ZNF423 CL E G H | 23090 | 16762 | OMIM:614844 | Nephronophthisis 14 | . | | | 49 | | |
HP:0000107 | HP:0004734 | Renal cortical microcysts | 2 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0000107 | HP:0004734 | Renal cortical microcysts | 2 | NEK8 CL E G H | 284086 | 13387 | OMIM:613824 | NEPHRONOPHTHISIS 9; NPHP9 | | | | 43 | | |
HP:0000107 | HP:0004734 | Renal cortical microcysts | 2 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0000107 | HP:0004734 | Renal cortical microcysts | 2 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0000107 | HP:0004734 | Renal cortical microcysts | 2 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |