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:0011506 | HP:0011506 | Choroidal neovascularization | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 415 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | . | | | 260 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040284 - Very rare | | | 39 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040282 - Frequent | | | 20 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040284 - Very rare | | | | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040284 - Very rare | | | | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | CFI CL E G H | 3426 | 5394 | OMIM:615439 | Macular degeneration, age-related, 13 | | | | 57 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | | | | 44 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | CLEC3B CL E G H | 7123 | 11891 | OMIM:619977 | | | | | | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 151 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:616118 | MACULAR DEGENERATION, EARLY-ONSET; EOMD | | | | 655 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | HP:0040284 - Very rare | | | 262 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | MAPKAPK3 CL E G H | 7867 | 6888 | OMIM:617111 | Macular dystrophy, patterned, 3 | HP:0040284 - Very rare | | | 1 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:169150 | Macular dystrophy, patterned, 1 | HP:0040284 - Very rare | | | 159 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608161 | Macular dystrophy, vitelliform, 3 | HP:0040284 - Very rare | | | 159 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040282 - Frequent | | | 95 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0011506 | HP:0011506 | Choroidal neovascularization | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0011506 | HP:0031240 | Juxtafoveal choroidal neovascularization | 1 | CL E G H | | | | | | | | | | |
HP:0011506 | HP:0031239 | Extrafoveal choroidal neovascularization | 1 | CL E G H | | | | | | | | | | |
HP:0011506 | HP:0031241 | Subfoveal choroidal neovascularization | 1 | CL E G H | | | | | | | | | | |