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:0002168 | HP:0002168 | Scanning speech | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 78 | 10548 | 601556 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 76 | 10548 | 601556 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 101 | 10549 | 611150 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 99 | 10549 | 611150 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 101 | 10549 | 611150 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 99 | 10549 | 611150 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 265 | 19967 | 611204 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 258 | 19967 | 611204 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 171 | 25223 | 609825 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 137 | 25223 | 609825 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 81 | 2661 | 603448 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 80 | 2661 | 603448 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ITPR1 CL E G H | 3708 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ITPR1 CL E G H | 3708 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 969 | 6180 | 147265 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 895 | 6180 | 147265 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | PAX6 CL E G H | 5080 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | PAX6 CL E G H | 5080 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 365 | 9086 | 300401 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 335 | 9086 | 300401 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 808 | 16268 | 603197 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 669 | 16268 | 603197 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2088 | 10519 | 604490 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 1914 | 10519 | 604490 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 186 | 25186 | 616101 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 176 | 25186 | 616101 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 745 | 2073 | 607998 |
HP:0002168 | HP:0002168 | Scanning speech | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 645 | 2073 | 607998 |
HPO disease - gene - phenotype less frequent non-typical associations: |