DisGeNET - a database of gene-disease associations

Liver carcinoma, C2239176

Gene: TERT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1554040964

TERT

0.700

CausalMutation

CLINVAR

Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

28677271

2017

dbSNP:

rs1554043088

TERT

0.700

CausalMutation

CLINVAR

Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

28677271

2017

dbSNP:

rs1554043124

TERT

0.700

GeneticVariation

CLINVAR

Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

28677271

2017

dbSNP:

rs1554040964

TERT

0.700

CausalMutation

CLINVAR

Liver transplantation for hepatocellular carcinoma in a patient with a novel telomerase mutation and steatosis.

23000435

2013

dbSNP:

rs2736098

TERT

0.040

GeneticVariation

BEFREE

Here we analyzed the TERT promoter status and genotyped the TERT SNPs at rs2736098 and rs2736100 in patients with HCC.

28416747

2017

dbSNP:

rs2736098

TERT

0.040

GeneticVariation

BEFREE

Additionally, the association was more significant in Asians (OR=1.20; 95% CI=1.07-1.34), while in subsequent analyses stratified by cancer type, the variant rs2736098 was definitely associated with increased lung cancer (OR=1.18; 95% CI=1.07-1.29) and hepatocellular carcinoma risk (OR=1.38; 95% CI=1.20-1.59).

27273963

2016

dbSNP:

rs2736098

TERT

0.040

GeneticVariation

BEFREE

Both the rs2736098 T allele of TERT and the rs401681 T allele of CLPTM1L were associated with a significantly increased risk of HCC (adjusted odds ratio [OR]=1.605, 95% confidence interval [CI]=1.164-2.213; adjusted OR=1.399, 95%CI=1.002-1.955, respectively).

25339005

2014

dbSNP:

rs2736098

TERT

0.040

GeneticVariation

BEFREE

Four hundred patients with HCC and 400 non-cancer controls were genotyped to elucidate the potential association between hTERT rs2736098 polymorphism and HCC risks.

23392802

2013

dbSNP:

rs1346044973

TERT

0.010

GeneticVariation

BEFREE

A novel TERT variant, A243V, was identified in a 65-year-old male with advanced HCC and cirrhosis secondary to chronic hepatitis C virus (HCV) and alcohol ingestion, but direct assay measurements in vitro did not detect modulation of telomerase enzymatic activity or processivity.

28813500

2017

dbSNP:

rs2736100

TERT

0.010

GeneticVariation

BEFREE

Here we analyzed the TERT promoter status and genotyped the TERT SNPs at rs2736098 and rs2736100 in patients with HCC.</span>

28416747

2017

dbSNP:

rs2853669

TERT

0.010

GeneticVariation

BEFREE

In conclusion, we demonstrate a substantial role for the rs2853669 in HCC with TERT promoter mutation, which suggests that the combination of the rs2853669 and the mutation indicate poor prognoses in liver cancer.

26575952

2016