DisGeNET - a database of gene-disease associations

MMADHC, metabolism of cobalamin associated D, 27249

N. diseases: 36; N. variants: 14

Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type ×

Variant: rs118204045 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs118204045

Entrez Id:	27249
Gene Symbol:	MMADHC

MMADHC

CUI:	C1848552
Disease:

Methylmalonic Aciduria and Homocystinuria, CblD Type

0.700

GeneticVariation

UNIPROT

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

26483544

2015

dbSNP:

rs118204045

Entrez Id:	27249
Gene Symbol:	MMADHC

MMADHC

CUI:	C1848552
Disease:

Methylmalonic Aciduria and Homocystinuria, CblD Type

0.700

GeneticVariation

UNIPROT

Characterization of functional domains of the cblD (MMADHC) gene product.

24722857

2014

dbSNP:

rs118204045

Entrez Id:	27249
Gene Symbol:	MMADHC

MMADHC

CUI:	C1848552
Disease:

Methylmalonic Aciduria and Homocystinuria, CblD Type

0.700

GeneticVariation

UNIPROT

Gene identification for the cblD defect of vitamin B12 metabolism.

18385497

2008