|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
GALNT12 is not a major contributor of familial colorectal cancer type X.
|
24115450 |
2014 |
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.
|
22461326 |
2012 |
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
|
19617566 |
2009 |
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
|
19617566 |
2009 |
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Expression of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-12 in gastric and colonic cancer cell lines and in human colorectal cancer.
|
15557789 |
2004 |
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
0.700 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
|
Colorectal Carcinoma
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
In addition, the structure provides insight into how colorectal cancer mutations disrupt the activity of GalNAc-T12 and illustrates how the rules dictating GalNAc-T12 function are distinct from those for other GalNAc-Ts.
|
31548401 |
2019 |
|
Colorectal Carcinoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Here, we screened a new population-based cohort of incident CRC cases (N = 479) for rare (MAF ≤1%) deleterious germline GALNT12 variants.
|
29749045 |
2018 |
|
Colorectal Carcinoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
Our results rule out GALNT12 as a major high CRC susceptibility gene.
|
24115450 |
2014 |
|
Colorectal Carcinoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
In case of R297W-GALNT12, prediction of highly deleterious effect and disruption in ionic interactions were anticipated with reduction in enzymatic activity, associated with bilateral breast cancer and primary colorectal cancers.
|
24038392 |
2014 |
|
Colorectal Carcinoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Although this study does not provide irrefutable evidence that GALNT12 variants are highly penetrant alleles that predispose to CRC in the majority of unexplained hereditary CRC families, it does provide additional evidence to support an important role of these variants in a proportion of this considerable high-risk group.
|
22461326 |
2012 |
|
Colorectal Carcinoma
|
0.350 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Colorectal Neoplasms
|
0.310 |
AlteredExpression
|
group |
LHGDN |
Expression of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-12 in gastric and colonic cancer cell lines and in human colorectal cancer.
|
15557789 |
2004 |
|
Colorectal Neoplasms
|
0.310 |
Biomarker
|
group |
CTD_human |
|
|
|
|
Non-obstructive azoospermia
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
|
22197933 |
2011 |
|
Malignant neoplasm of colon and/or rectum
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
In addition, the structure provides insight into how colorectal cancer mutations disrupt the activity of GalNAc-T12 and illustrates how the rules dictating GalNAc-T12 function are distinct from those for other GalNAc-Ts.
|
31548401 |
2019 |
|
Malignant neoplasm of colon and/or rectum
|
0.020 |
Biomarker
|
disease |
BEFREE |
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.
|
29749045 |
2018 |
|
Adenoma
|
0.010 |
Biomarker
|
group |
BEFREE |
Since phenotypes of the described carrier families showed not only CRC but also a polyp history, we hypothesized that GALNT12 could be involved in adenoma predisposition and consequently, in hereditary polyposis CRC syndromes.
|
29095867 |
2017 |
|
Adenomatous Polyposis Coli
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.
|
29095867 |
2017 |
|
Multiple polyps
|
0.010 |
Biomarker
|
disease |
BEFREE |
Since phenotypes of the described carrier families showed not only CRC but also a polyp history, we hypothesized that GALNT12 could be involved in adenoma predisposition and consequently, in hereditary polyposis CRC syndromes.
|
29095867 |
2017 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility.
|
29095867 |
2017 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We hypothesized that mutations in GALNT12 might explain part of the high-risk families grouped as familial CRC type X (fCRC-X), that is, Amsterdam-positive families with mismatch repair proficient tumors.
|
24115450 |
2014 |
|
bilateral breast cancer
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In case of R297W-GALNT12, prediction of highly deleterious effect and disruption in ionic interactions were anticipated with reduction in enzymatic activity, associated with bilateral breast cancer and primary colorectal cancers.
|
24038392 |
2014 |