Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Metabolic myopathies: update 2009. 19258857 2009
Entrez Id: 1558
Gene Symbol: CYP2C8
CYP2C8 		0.300 Biomarker phenotype CTD_human A frameshift variant of CYP2C8 was identified in a patient who suffered from rhabdomyolysis after administration of cerivastatin. 15365880 2004
Entrez Id: 3630
Gene Symbol: INS
INS 		0.300 Biomarker phenotype CTD_human Rhabdomyolysis with concurrent atorvastatin and diltiazem. 12243603 2002
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 26762
Gene Symbol: HAVCR1
HAVCR1 		0.200 Biomarker phenotype RGD Selenium inhibits renal oxidation and inflammation but not acute kidney injury in an animal model of rhabdomyolysis. 22937747 2013
Entrez Id: 3162
Gene Symbol: HMOX1
HMOX1 		0.200 Therapeutic phenotype RGD Phenolic antioxidants tert-butyl-bisphenol and vitamin E decrease oxidative stress and enhance vascular function in an animal model of rhabdomyolysis yet do not improve acute renal dysfunction. 21726176 2011
Entrez Id: 211
Gene Symbol: ALAS1
ALAS1 		0.200 Biomarker phenotype RGD Free heme pool and activity of key enzyme of heme synthesis in the rat liver under action of agents affecting reduced glutathione level. 16846079 2006
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.120 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.120 GeneticVariation phenotype LHGDN A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. 17709715 2007
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.120 GeneticVariation phenotype LHGDN Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. 15754283 2005
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.120 Biomarker phenotype HPO
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.110 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.110 GeneticVariation phenotype LHGDN Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. 12066726 2002
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.110 Biomarker phenotype HPO
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		0.100 CausalMutation phenotype CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018
Entrez Id: 5213
Gene Symbol: PFKM
PFKM 		0.100 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 28988
Gene Symbol: DBNL
DBNL 		0.100 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		0.100 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 5224
Gene Symbol: PGAM2
PGAM2 		0.100 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 191
Gene Symbol: AHCY
AHCY 		0.100 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		0.100 CausalMutation phenotype CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781 2016
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.100 GeneticVariation phenotype GWASCAT Cerivastatin, genetic variants, and the risk of rhabdomyolysis. 21386754 2011
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.100 Biomarker phenotype HPO
Entrez Id: 5230
Gene Symbol: PGK1
PGK1 		0.100 Biomarker phenotype HPO