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:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | HP:0040284 - Very rare | | | 193 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | | | | 63 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040282 - Frequent | | | | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | . | | | 177 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | | | 92 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | . | | | 1 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | | | 39 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | | | | 194 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | | | | 43 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0007676 | HP:0007676 | Hypoplasia of the iris | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0007676 | HP:0008345 | Hypoplasia of the iris dilator muscle | 1 | CL E G H | | | | | | | | | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | . | | | 63 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | . | | | 63 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | HP:0040282 - Frequent | | | 194 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0007676 | HP:0000558 | Rieger anomaly | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0007676 | HP:0007990 | Hypoplastic iris stroma | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |