DisGeNET - a database of gene-disease associations

Neural tube defect, folate-sensitive, C1866558

Source: CURATED ×

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	4522
Gene Symbol:	MTHFD1

MTHFD1

P11586

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Enzyme

0.554

0.769

4.5E-03

0.600

limited

1.000

1998

2006

Entrez Id:	4548
Gene Symbol:	MTR

MTR

Q99707

5-methyltetrahydrofolate-homocysteine methyltransferase

0.482

0.808

2.4E-12

0.500

None

1.000

2016

Entrez Id:	4552
Gene Symbol:	MTRR

MTRR

Q9UBK8

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

0.502

0.808

2.2E-14

0.500

strong

1.000

2016

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

P42898

methylenetetrahydrofolate reductase

192

0.337

0.885

3.2E-10

0.500

None

1.000

2001