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:0000588 | HP:0000588 | Optic disc coloboma | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 247 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040284 - Very rare | | | 170 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 111 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:1475 | Renal coloboma syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120430 | Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included | | | | 194 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | | | | 194 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:35737 | Morning glory disc anomaly | HP:0040283 - Occasional | | | 194 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040284 - Very rare | | | | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 167 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | SALL2 CL E G H | 6297 | 10526 | OMIM:216820 | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | | | | 1 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | | | | 6 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040282 - Frequent | | | 166 | | |
HP:0000588 | HP:0000588 | Optic disc coloboma | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |