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:0003391 | HP:0003391 | Gowers sign | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97244 | Rigid spine syndrome | HP:0040283 - Occasional | | | 96 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | . | | | 46 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | HP:0040282 - Frequent | | | 46 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | . | | | 46 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | . | | | 35 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 442 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 478 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 702 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | HP:0040283 - Occasional | | | 108 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | . | | | 108 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | . | | | 1496 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | GATM CL E G H | 2628 | 4175 | OMIM:612718 | Cerebral creatine deficiency syndrome 3 | HP:0040283 - Occasional | | | 86 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | HACD1 CL E G H | 9200 | 9639 | OMIM:619967 | | | | | 2 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | . | | | 7 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | | | | 127 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | . | | | 72 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | . | | | 217 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | HP:0040284 - Very rare | | | 118 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | . | | | 759 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040282 - Frequent | | | 759 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | . | | | 33 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | . | | | 18 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040282 - Frequent | | | 213 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | . | | | 73 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:97244 | Rigid spine syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | HP:0040282 - Frequent | | | 132 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | HP:0040282 - Frequent | | | 113 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040283 - Occasional | | | 83 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | . | | | 83 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 20 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0003391 | HP:0003391 | Gowers sign | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |