DisGeNET - a database of gene-disease associations

GNMT, glycine N-methyltransferase, 27232

N. diseases: 57; N. variants: 5

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:

rs864321678

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C1847720
Disease:

Hypermethioninemia due to deficiency of glycine N-methyltransferase

0.800

GeneticVariation

UNIPROT

Glycine N -methyltransferase deficiency: a new patient with a novel mutation.

14739680

2003

dbSNP:

rs864321678

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C1847720
Disease:

Hypermethioninemia due to deficiency of glycine N-methyltransferase

0.800

GeneticVariation

UNIPROT

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

11810299

2002

dbSNP:

rs121907888

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C1847720
Disease:

Hypermethioninemia due to deficiency of glycine N-methyltransferase

0.800

GeneticVariation

UNIPROT

dbSNP:

rs121907888

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C1847720
Disease:

Hypermethioninemia due to deficiency of glycine N-methyltransferase

0.800

CausalMutation

CLINVAR

dbSNP:

rs121907889

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C1847720
Disease:

Hypermethioninemia due to deficiency of glycine N-methyltransferase

0.800

GeneticVariation

UNIPROT

dbSNP:

rs121907889

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C1847720
Disease:

Hypermethioninemia due to deficiency of glycine N-methyltransferase

0.800

CausalMutation

CLINVAR

dbSNP:

rs864321678

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C1847720
Disease:

Hypermethioninemia due to deficiency of glycine N-methyltransferase

0.800

CausalMutation

CLINVAR

dbSNP:

rs10948059

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs10948059

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C0600139
Disease:

Prostate carcinoma

0.020

GeneticVariation

BEFREE

One presently identified eQTL for the PEX6 gene was rs10948059, which had been associated with prostate cancer from previous association studies.

28033303

2016

dbSNP:

rs10948059

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.020

GeneticVariation

BEFREE

One presently identified eQTL for the PEX6 gene was rs10948059, which had been associated with prostate cancer from previous association studies.

28033303

2016

dbSNP:

rs10948059

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C0600139
Disease:

Prostate carcinoma

0.020

GeneticVariation

BEFREE

In men of European descent, the GNMT rs10948059 and STRP1 were associated with prostate cancer risk.

24800880

2014

dbSNP:

rs10948059

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.020

GeneticVariation

BEFREE

In men of European descent, the GNMT rs10948059 and STRP1 were associated with prostate cancer risk.

24800880

2014

dbSNP:

rs11752813

Entrez Id:	27232;107080644
Gene Symbol:	GNMT;CNPY3-GNMT

GNMT;CNPY3-GNMT

CUI:	C0018798
Disease:

Congenital Heart Defects

0.010

GeneticVariation

BEFREE

Single nucleotide polymorphism in infant genes in the folate (MTHFS rs12438477), homocysteine (TRDMT1 rs6602178 and GNMT rs11752813) and transsulfuration (GSTP1 rs7941395 and MGST1 rs7294985) pathways were also associated with an increased risk of congenital heart defects.<b>Conclusions</b> Common maternal or infant genetic variants in folate, homocysteine, or transsulfuration pathways are associated with an increased risk of certain congenital heart defects among children of women taking SSRIs during cardiogenesis.

28264803

2017