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:0001139 | HP:0001139 | Choroideremia | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 182 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:1243 | Best vitelliform macular dystrophy | HP:0040283 - Occasional | | | 182 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | EPHA2 CL E G H | 1969 | 3386 | OMIM:116600 | Cataract, posterior polar, 1 ctpa cataract, congenital total, included | . | | | 87 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 120 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0001139 | HP:0001139 | Choroideremia | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040283 - Occasional | | | 13 | | |