DisGeNET - a database of gene-disease associations

MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1, 4522

N. diseases: 121; N. variants: 20

Disease: Spina Bifida ×

Variant: rs34181110 ×

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:

rs34181110

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

CUI:	C0080178
Disease:

Spina Bifida

0.010

GeneticVariation

BEFREE

The first one (R293H) was detected in a patient with familial spina bifida and not in 300 control individuals.

9611072

1998