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:0003546 | HP:0003546 | Exercise intolerance | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | . | | | 98 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 208 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040282 - Frequent | | | 74 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | . | | | 2 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CCDC78 CL E G H | 124093 | 14153 | OMIM:614807 | Myopathy, centronuclear, 4 | | | | 25 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | HP:0040282 - Frequent | | | 11 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | . | | | 11 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 5 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040282 - Frequent | | | 5 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COA3 CL E G H | 28958 | 24990 | OMIM:619058 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14 | | | | 2 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COL13A1 CL E G H | 1305 | 2190 | OMIM:616720 | Myasthenic syndrome, congenital, 19 | . | | | 6 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 110 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 110 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 137 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | | | | 89 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | HP:0040282 - Frequent | | | 136 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COQ8A CL E G H | 56997 | 16812 | OMIM:612016 | Coenzyme Q10 deficiency, primary, 4 | . | | | 136 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | . | | | 34 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | FLAD1 CL E G H | 80308 | 24671 | OMIM:255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | . | | | 18 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 87 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 37 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 115 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615352 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | . | | | 34 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | GYS1 CL E G H | 2997 | 4706 | OMIM:611556 | Glycogen storage disease 0, muscle | | | | 52 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040281 - Very frequent | | | 99 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | . | | | 19 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 148 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | | | | 730 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 452 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 217 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 90 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | | | | 13 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | . | | | 21 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | . | | | 54 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | | | | 65 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | . | | | 57 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | | | | 71 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040281 - Very frequent | | | 166 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | RSPH4A CL E G H | 345895 | 21558 | OMIM:612649 | Ciliary dyskinesia, primary, 11 | . | | | 58 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | | | | 1134 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | . | | | 2 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SLC25A32 CL E G H | 81034 | 29683 | OMIM:616839 | EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI | | | | 3 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | . | | | 68 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 20 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 6 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | . | | | 4 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040282 - Frequent | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0003546 | HP:0003546 | Exercise intolerance | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | . | | | 45 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 110 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 110 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040282 - Frequent | | | 137 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040282 - Frequent | | | 89 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:90647 | Jervell and Lange-Nielsen syndrome | HP:0040282 - Frequent | | | 730 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 13 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 71 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 1134 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040281 - Very frequent | | | 56 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0003546 | HP:0030973 | Postexertional symptom exacerbation | 1 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |