CPT2, carnitine palmitoyltransferase 2, 1376

N. diseases: 187; N. variants: 78
Disease: Rhabdomyolysis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.120 GeneticVariation phenotype CLINVAR Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. 28779239 2017
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.120 GeneticVariation phenotype LHGDN A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. 17709715 2007
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.120 GeneticVariation phenotype LHGDN Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. 15754283 2005
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.120 Biomarker phenotype HPO