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:0002601 | HP:0002601 | Paresis of extensor muscles of the big toe | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 86 | | |
HP:0002601 | HP:0002601 | Paresis of extensor muscles of the big toe | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | . | | | 47 | | |
HP:0002601 | HP:0002601 | Paresis of extensor muscles of the big toe | 0 | HSPB8 CL E G H | 26353 | 30171 | OMIM:158590 | Neuronopathy, distal hereditary motor, type IIA | . | | | 38 | | |
HP:0002601 | HP:0002601 | Paresis of extensor muscles of the big toe | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 1 | | |
HP:0002601 | HP:0002601 | Paresis of extensor muscles of the big toe | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0002601 | HP:0002601 | Paresis of extensor muscles of the big toe | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 27 | | |