DisGeNET - a database of gene-disease associations

Isobutyryl-CoA dehydrogenase deficiency, C1969809

Variant: rs200620279 ×

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:

rs200620279

ACAD8

0.800

GeneticVariation

CLINVAR

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

17304052

2007

dbSNP:

rs200620279

ACAD8

0.800

GeneticVariation

CLINVAR

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

16857760

2006

dbSNP:

rs200620279

ACAD8

0.800

GeneticVariation

UNIPROT