Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10599
Gene Symbol: SLCO1B1
SLCO1B1
0.030 GeneticVariation phenotype BEFREE We evaluated the effect of rs4363657 and rs4149056 in SLCO1B1, which encodes organic anion-transporting polypeptide OATP1B1, a regulator of hepatic statin uptake, on clinically reported myalgia. 23708174 2013
Entrez Id: 10599
Gene Symbol: SLCO1B1
SLCO1B1
0.030 GeneticVariation phenotype BEFREE SLCO1B1 tagging rs4363657 polymorphism was analyzed in 2 groups of patients with dyslipidemia (treated with simvastatin or atorvastatin, 10 or 20 mg per day), subgroup with statin-induced myalgia (N=286), and subgroup (N=707) without myalgia/myopathy, and in 2301 population controls without lipid-lowering treatment. 25992810 2015
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.020 GeneticVariation phenotype BEFREE Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. 23628358 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
0.020 GeneticVariation phenotype BEFREE Twenty-two patients with recurrent rhabdomyolysis (CK > 10 000) or myalgia with hyperCKemia (>1.5 × ULN) and a RYR1 mutation were identified. 29635721 2018
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
0.010 GeneticVariation phenotype BEFREE In particular, we analyzed the MyoD-1 gene, which is responsible for modulation of the CPK gene, which is a marker of muscle pain and damage. 27314492 2016
Entrez Id: 353
Gene Symbol: APRT
APRT
0.010 GeneticVariation phenotype BEFREE Lack of the muscle-specific isoform of AMP deaminase (myoadenylate deaminase deficiency) can cause a metabolic myopathy, with exercise-induced muscle symptoms such as early fatigue, cramps and/or myalgia. 9211191 1997
Entrez Id: 10990
Gene Symbol: LILRB5
LILRB5
0.010 GeneticVariation phenotype BEFREE A common missense variant of LILRB5 is associated with statin intolerance and myalgia. 29020356 2017
Entrez Id: 7202
Gene Symbol: TRI-AAT9-1
TRI-AAT9-1
0.010 GeneticVariation phenotype BEFREE We describe a 39-year-old woman with myalgia and exercise-related recurrent myoglobinuria, who harbored a novel mitochondrial DNA mutation at nucleotide 4281 (m.4281A>G) in the tRNA-isoleucine gene. 21324494 2011
Entrez Id: 10507
Gene Symbol: SEMA4D
SEMA4D
0.010 GeneticVariation phenotype BEFREE Concerning the safety profile, peripheral neuropathy (gr I 60%, gr II 13.5%, and gr III 2.4%), myalgia (43.4%), and edema (10.5%) were commonly reported, whereas dyspepsia (5.3%) and insomnia (14.5%) were rarely described in withholding patients. 29435713 2018
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
0.010 GeneticVariation phenotype BEFREE We experienced a patient with progressive bone and muscle pain due to FGF23-related TIO. 28768937 2017
Entrez Id: 7349
Gene Symbol: UCN
UCN
0.010 GeneticVariation phenotype BEFREE Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. 14605505 2003
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB
0.010 GeneticVariation phenotype BEFREE Indirect muscle damage markers (i.e., countermovement jump, delayed onset of muscle soreness [DOMS], and creatine kinase [CK]) and sport-specific performances (i.e., change-of-direction [COD] test and suicide test [ST]) were measured before and 24 hours after training. 28930877 2018
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.010 GeneticVariation phenotype BEFREE We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ApaI (G17200A) SNP demonstrated the greatest strength loss immediately after exercise, greatest soreness, and highest postexercise serum CK activity; 2) homozygous wild type for IGF2AS (G11711T, rs7924316) had the greatest strength loss and most muscle soreness; and 3) homozygous wild type for the IGF2AS G11711T SNP showed the greatest strength loss, highest muscle soreness, and greater CK and myoglobin response to exercise. 17289909 2007
Entrez Id: 1674
Gene Symbol: DES
DES
0.010 GeneticVariation phenotype BEFREE Equine myofibrillar myopathy (MFM) causes exertional muscle pain and is characterized by myofibrillar disarray and ectopic desmin aggregates of unknown origin. 30289745 2018
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
0.010 GeneticVariation phenotype BEFREE Lack of the muscle-specific isoform of AMP deaminase (myoadenylate deaminase deficiency) can cause a metabolic myopathy, with exercise-induced muscle symptoms such as early fatigue, cramps and/or myalgia. 9211191 1997
Entrez Id: 51214
Gene Symbol: IGF2-AS
IGF2-AS
0.010 GeneticVariation phenotype BEFREE We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ApaI (G17200A) SNP demonstrated the greatest strength loss immediately after exercise, greatest soreness, and highest postexercise serum CK activity; 2) homozygous wild type for IGF2AS (G11711T, rs7924316) had the greatest strength loss and most muscle soreness; and 3) homozygous wild type for the IGF2AS G11711T SNP showed the greatest strength loss, highest muscle soreness, and greater CK and myoglobin response to exercise. 17289909 2007
Entrez Id: 3739
Gene Symbol: KCNA4
KCNA4
0.010 GeneticVariation phenotype BEFREE We evaluated the hypothesis that vibration induces an interleukin 6 (IL-6)-mediated downregulation of the potassium voltage-gated channel subfamily A member 4 (KV1.4) in nociceptors leading to muscle pain. 31335655 2019
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18
0.010 GeneticVariation phenotype BEFREE Patients with KCNJ18 mutation had shorter attack duration, higher prevalence of muscle soreness and weakness recurrence than patients without KCNJ18 mutation. 25885757 2015
Entrez Id: 846
Gene Symbol: CASR
CASR
0.010 GeneticVariation phenotype BEFREE The human calcium-sensing receptor (<i>CASR</i>) is the key controller of extracellular Ca<sub>o</sub><sup>2+</sup> homeostasis, and different mutations in the <i>CASR</i> gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe hyperparathyroidism, autosomal-dominant hypocalcemia (ADH), and Bartter's syndrome type V. In this study, two generations of a family with biochemically and clinically confirmed ADH who suffered severe muscle pain, arthralgia, tetany, abdominal pain, and fatigue were evaluated for mutations in the <i>CASR</i> gene. 29743878 2018
Entrez Id: 2834
Gene Symbol: PRLHR
PRLHR
0.010 GeneticVariation phenotype BEFREE Concerning the safety profile, peripheral neuropathy (gr I 60%, gr II 13.5%, and gr III 2.4%), myalgia (43.4%), and edema (10.5%) were commonly reported, whereas dyspepsia (5.3%) and insomnia (14.5%) were rarely described in withholding patients. 29435713 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.010 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: 1376
Gene Symbol: CPT2
CPT2
0.160 Biomarker phenotype HPO
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 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 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