Phenotype: Exercise-induced myalgia (HP:0003738)
Associated genes and diseases:
gene_symbol: AMPD1
disease_id: ORPHA:45
disease_name: Adenosine monophosphate deaminase deficiency
AMP deaminase deficiency
Myoadenylate deaminase deficiency
gene_symbol: AMPD1
disease_id: OMIM:615511
disease_name: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
gene_symbol: AMPD3
disease_id: ORPHA:45
disease_name: Adenosine monophosphate deaminase deficiency
AMP deaminase deficiency
Myoadenylate deaminase deficiency
gene_symbol: ACADM
disease_id: ORPHA:42
disease_name: Medium chain acyl-CoA dehydrogenase deficiency
ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
MCAD deficiency
MCADD
Medium chain acyl-coenzyme A dehydrogenase deficiency
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: PHKA1
disease_id: OMIM:300559
disease_name: GLYCOGEN STORAGE DISEASE, TYPE IXd
gene_symbol: RYR1
disease_id: OMIM:255320
disease_name: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
gene_symbol: RYR1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: TRIM32
disease_id: OMIM:254110
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: RRM2B
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: RNASEH1
disease_id: ORPHA:329336
disease_name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO with mitochondrial myopathy
gene_symbol: FLNC
disease_id: ORPHA:63273
disease_name: Distal myopathy with posterior leg and anterior hand involvement
Distal ABD-filaminopathy
gene_symbol: CAV3
disease_id: OMIM:606072
disease_name: RIPPLING MUSCLE DISEASE 2
gene_symbol: PFKM
disease_id: OMIM:232800
disease_name: GLYCOGEN STORAGE DISEASE VII
gene_symbol: PYGM
disease_id: OMIM:232600
disease_name: GLYCOGEN STORAGE DISEASE V
gene_symbol: PYGM
disease_id: ORPHA:368
disease_name: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
GSD due to muscle glycogen phosphorylase deficiency
GSD type 5
GSD type V
Glycogen storage disease type 5
Glycogen storage disease type V
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis type 5
Glycogenosis type V
McArdle disease
Myophosphorylase deficiency
gene_symbol: CPT2
disease_id: ORPHA:228302
disease_name: Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
gene_symbol: CPT2
disease_id: ORPHA:228305
disease_name: Carnitine palmitoyl transferase II deficiency, severe infantile form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
gene_symbol: MATR3
disease_id: ORPHA:600
disease_name: Vocal cord and pharyngeal distal myopathy
Distal myopathy with vocal cord weakness
MATR3-related distal myopathy
VCPDM
gene_symbol: BIN1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: MTMR14
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: MYF6
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: DNM2
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: PMP22
disease_id: ORPHA:640
disease_name: Hereditary neuropathy with liability to pressure palsies
Current pressure-sensitive neuropathy
HNPP
Heterozygous microdeletion 17p11.2p12
Potato-grubbing palsy
Tomaculous neuropathy
Tulip-bulb digger's palsy
gene_symbol: TMEM126B
disease_id: OMIM:618250
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: PGAM2
disease_id: OMIM:261670
disease_name: GLYCOGEN STORAGE DISEASE X
gene_symbol: DYSF
disease_id: ORPHA:178400
disease_name: Distal myopathy with anterior tibial onset
Distal anterior compartment myopathy
gene_symbol: DYSF
disease_id: ORPHA:45448
disease_name: Miyoshi myopathy
gene_symbol: HNRNPA1
disease_id: OMIM:615424
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: MLIP
disease_id: OMIM:620138
disease_name: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS
gene_symbol: SLC25A42
disease_id: OMIM:618416
disease_name: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
gene_symbol: OBSCN
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: LPIN1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO3
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: PGK1
disease_id: ORPHA:713
disease_name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: STIM1
disease_id: OMIM:160565
disease_name: MYOPATHY, TUBULAR AGGREGATE, 1
gene_symbol: ANO5
disease_id: ORPHA:206549
disease_name: Anoctamin-5-related limb-girdle muscular dystrophy R12
Anoctamin-5-related LGMD R12
Autosomal recessive limb-girdle muscular dystrophy type 2L
LGMD type 2L
LGMD2L
Limb-girdle muscular dystrophy type 2L