DisGeNET - a database of gene-disease associations

3-methylcrotonyl CoA carboxylase 1 deficiency, C0268600

Variant: rs776641008 ×

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:

rs776641008

MCCC1

0.700

CausalMutation

CLINVAR

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

22642865

2012

dbSNP:

rs776641008

MCCC1

0.700

CausalMutation

CLINVAR

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

15359379

2004

dbSNP:

rs776641008

MCCC1

0.700

CausalMutation

CLINVAR

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

11181649

2001