Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.160 GeneticVariation phenotype BEFREE Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. 27034144 2016
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.160 Biomarker phenotype BEFREE Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder characterized by myalgia, exercise intolerance, and rhabdomyolysis. 20505667 2010
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.160 Biomarker phenotype BEFREE Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid metabolism characterized in its adult form by attacks of myalgia and myoglobinuria. 17936304 2008
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.160 Biomarker phenotype BEFREE Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise. 15622536 2005
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.160 GeneticVariation phenotype BEFREE We have identified a novel missense mutation in the carnitine palmitoyltransferase II (CPT II) gene in a child with CPT II deficiency characterized clinically by episodes of myalgia and myoglobinuria induced by intercurrent febrile illnesses. 10868782 2000
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.160 Biomarker phenotype BEFREE Adult-onset carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disease characterized by muscle pain and stiffness with rhabdomyolysis and myoglobinuria in severe cases. 10873395 2000
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
0.160 Biomarker phenotype HPO
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.130 GeneticVariation phenotype BEFREE Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients. 28187523 2017
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.130 GeneticVariation phenotype BEFREE A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties. 28214267 2017
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.130 GeneticVariation phenotype BEFREE Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man. 24889862 2014
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
0.130 Biomarker phenotype HPO
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.120 GeneticVariation phenotype BEFREE We present three boys with DMD single nucleotide variants associated with Becker muscular dystrophy presenting with myalgia, reduced exercise capacity, neurodevelopmental symptoms and elevated creatine kinase. 31706698 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.120 GeneticVariation phenotype BEFREE Our results indicate that the later-onset FMF patients had a lower percentage of MEFV mutations in exon 10 and predominantly presented arthritis and myalgia. 30458853 2018
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.120 GeneticVariation phenotype BEFREE CAV3 mutation in a patient with transient hyperCKemia and myalgia. 27772553 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.120 GeneticVariation phenotype BEFREE IL-1beta is a cytokine associated with the function of the MEFV gene and thought to be responsible for its symptoms of fever and muscle aches. 20041150 2009
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.120 GeneticVariation phenotype BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938 2000
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.120 GeneticVariation phenotype BEFREE A Japanese boy with myalgia and cramps has a novel in-frame deletion of the dystrophin gene. 8628480 1996
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.120 Biomarker phenotype HPO
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.120 Biomarker phenotype HPO
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.120 Biomarker phenotype HPO
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1
0.110 GeneticVariation phenotype BEFREE Gain-of-function mutations in STIM1 or ORAI1 isoforms cause tubular aggregate myopathy (TAM), a skeletal muscle disorder with muscular pain, weakness and cramping. 30382595 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.110 Biomarker phenotype BEFREE Muscle soreness and IL-10 were elevated only 48 h after SSC protocol. 30953177 2019
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.110 GeneticVariation phenotype BEFREE We found that COL1A1 (minor) T-allele carriers ( rs1800012 ) and (major) T-allele homozygotes ( rs2249492 ) were generally weaker ( P ≤ 0.019); and (minor) A-allele carriers of COL2A1 ( P = 0.002) and (major) T-allele carriers of COL5A1 ( P = 0.004) SNPs reported greater muscle soreness, all compared with their respective major ( rs1800012 ; rs2070739 ) and minor ( rs2249492 ; rs12722 ) allele homozygote counterparts. 29799806 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.110 GeneticVariation phenotype BEFREE We found that COL1A1 (minor) T-allele carriers ( rs1800012 ) and (major) T-allele homozygotes ( rs2249492 ) were generally weaker ( P ≤ 0.019); and (minor) A-allele carriers of COL2A1 ( P = 0.002) and (major) T-allele carriers of COL5A1 ( P = 0.004) SNPs reported greater muscle soreness, all compared with their respective major ( rs1800012 ; rs2070739 ) and minor ( rs2249492 ; rs12722 ) allele homozygote counterparts. 29799806 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.110 GeneticVariation phenotype BEFREE To identify the cause of disease in an adult patient presenting with recent-onset fevers, chills, urticaria, fatigue, and profound myalgia, who was found to be negative for cryopyrin-associated periodic syndrome (CAPS) NLRP3 mutations by conventional Sanger DNA sequencing. 25988971 2015