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:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | . | | | 156 | | |
HP:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 124 | | |
HP:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:215500 | Choroidal dystrophy, central areolar 1 | . | | | 124 | | |
HP:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0030491 | HP:0030491 | Choriocapillaris atrophy | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040282 - Frequent | | | 95 | | |