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:0009046 | HP:0009046 | Difficulty running | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | | | | 127 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040282 - Frequent | | | 304 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | . | | | 46 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | . | | | 65 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | . | | | 427 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040283 - Occasional | | | 600 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040283 - Occasional | | | 157 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040282 - Frequent | | | 197 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | . | | | 14 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040282 - Frequent | | | 118 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040282 - Frequent | | | 87 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 20 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0009046 | HP:0009046 | Difficulty running | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |