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:0003388 | HP:0003388 | Easy fatigability | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | . | | | 127 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | . | | | | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | . | | | 5 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040282 - Frequent | | | | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | . | | | 88 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | . | | | 88 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:616324 | Myasthenic syndrome, congenital, 4B, fast-channel | . | | | 139 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 90 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 36 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 2 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 167 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 127 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 92 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | . | | | 2 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 7 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | . | | | 72 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 131 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040282 - Frequent | | | 134 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 9 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | . | | | 73 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | . | | | 263 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | . | | | 28 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | . | | | 4 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | . | | | 3 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0003388 | HP:0003388 | Easy fatigability | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |