DisGeNET - a database of gene-disease associations

MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase, 4548

N. diseases: 245; N. variants: 30

Disease: Methylcobalamin Deficiency, CblG Type ×

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:

rs121913578

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.800

GeneticVariation

UNIPROT

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

8968737

1996

dbSNP:

rs121913578

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.800

GeneticVariation

UNIPROT

Defects in human methionine synthase in cblG patients.

8968736

1996

dbSNP:

rs121913578

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913581

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

CausalMutation

CLINVAR

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

12068375

2002

dbSNP:

rs121913579

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

GeneticVariation

UNIPROT

Defects in human methionine synthase in cblG patients.

8968736

1996

dbSNP:

rs121913579

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

GeneticVariation

UNIPROT

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

8968737

1996

dbSNP:

rs121913580

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913582

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

CausalMutation

CLINVAR

dbSNP:

rs797044443

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

CausalMutation

CLINVAR

dbSNP:

rs797044444

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

CausalMutation

CLINVAR

dbSNP:

rs797044445

Entrez Id:	4548
Gene Symbol:	MTR

MTR

CUI:	C1855128
Disease:

Methylcobalamin Deficiency, CblG Type

0.700

CausalMutation

CLINVAR