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:0007001 | HP:0007001 | Loss of Purkinje cells in the cerebellar vermis | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0007001 | HP:0007001 | Loss of Purkinje cells in the cerebellar vermis | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0007001 | HP:0007001 | Loss of Purkinje cells in the cerebellar vermis | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040282 - Frequent | | | 9 | | |
HP:0007001 | HP:0007001 | Loss of Purkinje cells in the cerebellar vermis | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | . | | | 309 | | |
HP:0007001 | HP:0007001 | Loss of Purkinje cells in the cerebellar vermis | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | . | | | 102 | | |