DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Gene: MTR ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	4548
Gene Symbol:	MTR

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

0.482

0.808

2.4E-12

CUI:	C1855128
Disease:	Methylcobalamin Deficiency, CblG Type

Methylcobalamin Deficiency, CblG Type

disease

0.700

None

1.000

1996

2017

Entrez Id:	4548
Gene Symbol:	MTR

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

0.482

0.808

2.4E-12

CUI:	C1866558
Disease:	Neural tube defect, folate-sensitive

Neural tube defect, folate-sensitive

disease

0.500

None

1.000

2016

Entrez Id:	4548
Gene Symbol:	MTR

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

0.482

0.808

2.4E-12

CUI:	C0036572
Disease:	Seizures

Seizures

phenotype

0.400

moderate

1.000

2017

Entrez Id:	4548
Gene Symbol:	MTR

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

0.482

0.808

2.4E-12

CUI:	C0268611
Disease:	Arakawa syndrome 2

Arakawa syndrome 2

disease

0.300

strong

1.000

2016