DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Homocystinuria, CblD Type, Variant 1 ×

Gene: MMADHC ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	27249
Gene Symbol:	MMADHC

MMADHC

CUI:	C1848553
Disease:	Homocystinuria, CblD Type, Variant 1

Homocystinuria, CblD Type, Variant 1

0.600

Biomarker

CTD_human

Entrez Id:	27249
Gene Symbol:	MMADHC

MMADHC

CUI:	C1848553
Disease:	Homocystinuria, CblD Type, Variant 1

Homocystinuria, CblD Type, Variant 1

0.600

CausalMutation

CLINVAR

Entrez Id:	27249
Gene Symbol:	MMADHC

MMADHC

CUI:	C1848553
Disease:	Homocystinuria, CblD Type, Variant 1

Homocystinuria, CblD Type, Variant 1

0.600

Biomarker

GENOMICS_ENGLAND