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:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 239 | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 105 | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 449 | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | . | | | | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 94 | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 87 | | |
HP:0003392 | HP:0003392 | First dorsal interossei muscle weakness | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 1053 | | |