DisGeNET - a database of gene-disease associations

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency, C2751532

Variant: rs137852636 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852636

HMGCS2

0.800

GeneticVariation

UNIPROT

Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.

12647205

2003

dbSNP:

rs137852636

HMGCS2

0.800

GeneticVariation

UNIPROT

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.

11228257

2001

dbSNP:

rs137852636

HMGCS2

0.800

GeneticVariation

UNIPROT

Genetic basis of mitochondrial HMG-CoA synthase deficiency.

11479731

2001

dbSNP:

rs137852636

HMGCS2

0.800

CausalMutation

CLINVAR