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:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 88 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 109 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 125 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | 65 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | PCNA CL E G H | 5111 | 8729 | ORPHA:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | STN1 CL E G H | 79991 | 26200 | OMIM:617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | . | | | 2 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0007763 | HP:0007763 | Retinal telangiectasia | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 14 | | |
HP:0007763 | HP:0030503 | Macular telangiectasia | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0007763 | HP:0030503 | Macular telangiectasia | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0007763 | HP:0030503 | Macular telangiectasia | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0007763 | HP:0030503 | Macular telangiectasia | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0007763 | HP:0030503 | Macular telangiectasia | 1 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0007763 | HP:0030503 | Macular telangiectasia | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |