DisGeNET - a database of gene-disease associations

Isovaleryl-CoA dehydrogenase deficiency, C0268575

Variant: rs1555404784 ×

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:

rs1555404784

IVD

0.700

GeneticVariation

CLINVAR

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

10677295

2000

dbSNP:

rs1555404784

IVD

0.700

GeneticVariation

CLINVAR

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

9665741

1998

dbSNP:

rs1555404784

IVD

0.700

CausalMutation

CLINVAR