DisGeNET - a database of gene-disease associations

MMADHC, metabolism of cobalamin associated D, 27249

N. diseases: 36; N. variants: 14

Disease: Homocystinuria, CblD Type, Variant 1 ×

Variant: rs118204046 ×

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:

rs118204046

rs118204046

Entrez Id:	27249
Gene Symbol:	MMADHC

MMADHC

CUI:	C1848553
Disease:

Homocystinuria, CblD Type, Variant 1

C

0.700

CausalMutation

CLINVAR