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:0002530 | HP:0002530 | Axial dystonia | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040282 - Frequent | | | 16 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | HP:0040282 - Frequent | | | 702 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | GNAL CL E G H | 2774 | 4388 | ORPHA:329466 | Autosomal dominant focal dystonia, DYT25 type | HP:0040282 - Frequent | | | 13 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | . | | | 5 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0002530 | HP:0002530 | Axial dystonia | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |