DisGeNET - a database of gene-disease associations

GALNT12, polypeptide N-acetylgalactosaminyltransferase 12, 79695

N. diseases: 16; N. variants: 7

Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 ×

Variant: rs145236923 ×

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:

rs145236923

Entrez Id:	79695
Gene Symbol:	GALNT12

GALNT12

CUI:	C1837315
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

0.700

GeneticVariation

UNIPROT

GALNT12 is not a major contributor of familial colorectal cancer type X.

24115450

2014

dbSNP:

rs145236923

Entrez Id:	79695
Gene Symbol:	GALNT12

GALNT12

CUI:	C1837315
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

0.700

GeneticVariation

UNIPROT

Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.

22461326

2012

dbSNP:

rs145236923

Entrez Id:	79695
Gene Symbol:	GALNT12

GALNT12

CUI:	C1837315
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

0.700

GeneticVariation

UNIPROT

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.

19617566

2009