Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040283 - Occasional | | | 304 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 442 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 478 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 702 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040283 - Occasional | | | 46 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040282 - Frequent | | | 600 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040282 - Frequent | | | 286 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | HP:0040283 - Occasional | | | 75 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040281 - Very frequent | | | 759 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0009073 | HP:0009073 | Progressive proximal muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |