Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 84 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 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:0009918 | HP:0009918 | Ectopia pupillae | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | CPAMD8 CL E G H | 27151 | 23228 | OMIM:617319 | Anterior segment dysgenesis 8 | | | | 5 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 1361 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | . | | | 63 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:618031 | Corneal dystrophy, posterior polymorphous, 4 | HP:0040284 - Very rare | | | 33 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | . | | | 5 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | HP:0040283 - Occasional | | | 4 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0009918 | HP:0009918 | Ectopia pupillae | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |