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:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | HP:0040282 - Frequent | | | 148 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040281 - Very frequent | | | 46 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | HP:0040281 - Very frequent | | | 75 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0009063 | HP:0009063 | Progressive distal muscle weakness | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |