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:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | HP:0040282 - Frequent | | | 148 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 65 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 65 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 442 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 442 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 478 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 478 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 702 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 702 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040282 - Frequent | | | 46 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | . | | | 263 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040282 - Frequent | | | 173 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | . | | | 173 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 5 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 80 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 13 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040282 - Frequent | | | 1269 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | . | | | 1269 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | . | | | 1269 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:181430 | Scapuloperoneal myopathy, myh7-related | . | | | 1269 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040282 - Frequent | | | 75 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | HP:0040282 - Frequent | | | 75 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 217 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 745 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040282 - Frequent | | | 118 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 19 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040282 - Frequent | | | 759 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040283 - Occasional | | | 8 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040283 - Occasional | | | 263 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 28 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 9 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 62 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 31 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 4 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 5 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | HP:0040282 - Frequent | | | 37 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 54 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 108 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040282 - Frequent | | | 7128 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | . | | | 7128 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040282 - Frequent | | | 7128 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | . | | | 7128 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003458 | HP:0003458 | EMG: myopathic abnormalities | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |