DisGeNET - a database of gene-disease associations

Propionic acidemia, C0268579

Variant: rs879253815 ×

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:

rs879253815

PCCB

0.800

CausalMutation

CLINVAR

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

27227689

2016

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

CLINVAR

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

24059531

2013

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.

15890657

2005

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

CLINVAR

Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.

15890657

2005

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

CLINVAR

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

15059621

2004

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

15059621

2004

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

12559849

2003

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

CLINVAR

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

12757933

2003

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

CLINVAR

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

12007220

2002

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

12189489

2002

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

11749052

2001

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

10447268

1999

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

CLINVAR

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

9683601

1998

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

9683601

1998

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

CLINVAR

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.

8295402

1993

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.

8411997

1993

dbSNP:

rs879253815

PCCB

0.800

GeneticVariation

UNIPROT

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

2154743

1990