DisGeNET - a database of gene-disease associations

Methylmalonic acidemia, C0268583

Variant: rs483352778 ×

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:

rs483352778

MMUT

0.700

CausalMutation

CLINVAR

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

20603089

2010

dbSNP:

rs483352778

MMUT

0.700

CausalMutation

CLINVAR

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

17075691

2007

dbSNP:

rs483352778

MMUT

0.700

CausalMutation

CLINVAR

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

17113806

2007

dbSNP:

rs483352778

MMUT

0.700

CausalMutation

CLINVAR

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

16281286

2006

dbSNP:

rs483352778

MMUT

0.700

CausalMutation

CLINVAR

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

11528502

2001