DisGeNET - a database of gene-disease associations

Isovaleryl-CoA dehydrogenase deficiency, C0268575

Variant: rs2229311 ×

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:

rs2229311

IVD

0.800

CausalMutation

CLINVAR

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

27904153

2017

dbSNP:

rs2229311

IVD

0.800

GeneticVariation

CLINVAR

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

25220015

2014

dbSNP:

rs2229311

IVD

0.800

GeneticVariation

CLINVAR

[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

19099814

2008

dbSNP:

rs2229311

IVD

0.800

CausalMutation

CLINVAR

[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

19099814

2008

dbSNP:

rs2229311

IVD

0.800

GeneticVariation

CLINVAR

Genetic mutation profile of isovaleric acidemia patients in Taiwan.

17027310

2007

dbSNP:

rs2229311

IVD

0.800

CausalMutation

CLINVAR

Genetic mutation profile of isovaleric acidemia patients in Taiwan.

17027310

2007

dbSNP:

rs2229311

IVD

0.800

CausalMutation

CLINVAR

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

17576084

2007

dbSNP:

rs2229311

IVD

0.800

GeneticVariation

CLINVAR

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

16825284

2006

dbSNP:

rs2229311

IVD

0.800

GeneticVariation

CLINVAR

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

15486829

2004

dbSNP:

rs2229311

IVD

0.800

CausalMutation

CLINVAR

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

15486829

2004

dbSNP:

rs2229311

IVD

0.800

GeneticVariation

CLINVAR

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

15486829

2004

dbSNP:

rs2229311

IVD

0.800

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:

rs2229311

IVD

0.800

CausalMutation

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:

rs2229311

IVD

0.800

GeneticVariation

CLINVAR

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

9665741

1998

dbSNP:

rs2229311

IVD

0.800

CausalMutation

CLINVAR

dbSNP:

rs2229311

IVD

0.800

GeneticVariation

UNIPROT