Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 203859
Gene Symbol: ANO5
ANO5
0.130 Biomarker phenotype HPO
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: 1277
Gene Symbol: COL1A1
COL1A1
0.110 Biomarker phenotype HPO
Entrez Id: 1312
Gene Symbol: COMT
COMT
0.110 Biomarker phenotype HPO
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
0.110 Biomarker phenotype HPO
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
0.110 Biomarker phenotype HPO
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
0.110 Biomarker phenotype HPO
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
0.110 Biomarker phenotype HPO
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: 2027
Gene Symbol: ENO3
ENO3
0.110 Biomarker phenotype HPO
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.110 Biomarker phenotype HPO
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1
0.110 Biomarker phenotype HPO
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.110 Biomarker phenotype HPO
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
0.110 Biomarker phenotype BEFREE STIM1 should therefore be considered for patients with tubular aggregate myopathies involving either muscle weakness or myalgia as the first and predominant clinical sign. 25326555 2014
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.110 Biomarker phenotype HPO
Entrez Id: 7084
Gene Symbol: TK2
TK2
0.110 Biomarker phenotype HPO
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
0.110 Biomarker phenotype HPO
Entrez Id: 1630
Gene Symbol: DCC
DCC
0.100 Biomarker phenotype HPO
Entrez Id: 5657
Gene Symbol: PRTN3
PRTN3
0.100 Biomarker phenotype HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.100 Biomarker phenotype HPO
Entrez Id: 112812
Gene Symbol: FDX2
FDX2
0.100 Biomarker phenotype HPO
Entrez Id: 4512
Gene Symbol: COX1
COX1
0.100 Biomarker phenotype HPO