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:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0000631 | HP:0000631 | Retinal arterial tortuosity | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0000631 | HP:0007768 | Central retinal vessel vascular tortuosity | 1 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040282 - Frequent | | | | | |