DisGeNET - a database of gene-disease associations

Isobutyryl-CoA dehydrogenase deficiency, C1969809

Variant: rs367996531 ×

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:

rs367996531

ACAD8

0.700

GeneticVariation

UNIPROT

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

16857760

2006

dbSNP:

rs367996531

ACAD8

0.700

GeneticVariation

UNIPROT

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.

15505379

2004

dbSNP:

rs367996531

ACAD8

0.700

GeneticVariation

UNIPROT

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

12359132

2003