Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205431
rs786205431
GALE ; HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		T 0.700 CausalMutation CLINVAR Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. 19177531

2009
dbSNP: rs786205431
rs786205431
GALE ; HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		T 0.700 CausalMutation CLINVAR Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 17173698

2006
dbSNP: rs786205431
rs786205431
GALE ; HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		T 0.700 CausalMutation CLINVAR The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. 15308132

2004
dbSNP: rs786205431
rs786205431
GALE ; HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		T 0.700 CausalMutation CLINVAR HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. 9463337

1998