Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 370 | 10604 | 604272 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 445 | 10604 | 604272 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 0 | | 364 | 2226 | 603033 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 0 | | 418 | 2226 | 603033 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 0 | | 600 | 6487 | 150325 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 0 | | 470 | 6487 | 150325 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | TUBB2B CL E G H | 347733 | 610031 | Polymicrogyria, asymmetric | 610031 | C2750247 | OMIM | 0 | | 151 | 30829 | 612850 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | TUBB2B CL E G H | 347733 | 610031 | Polymicrogyria, asymmetric | 610031 | C2750247 | OMIM | 0 | | 141 | 30829 | 612850 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | VMA21 CL E G H | 203547 | 310440 | Myopathy, X-linked, with excessive autophagy | 310440 | C1839615 | OMIM | 0 | | 230 | 22082 | 300913 |
HP:0007941 | HP:0007941 | Limited extraocular movements | 0 | VMA21 CL E G H | 203547 | 310440 | Myopathy, X-linked, with excessive autophagy | 310440 | C1839615 | OMIM | 0 | | 223 | 22082 | 300913 |