CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17860424
rs17860424
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1846545
Disease:
Autoimmune Lymphoproliferative Syndrome Type 2B
T 0.800 CausalMutation CLINVAR
dbSNP: rs17860424
rs17860424
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1846545
Disease:
Autoimmune Lymphoproliferative Syndrome Type 2B
0.800 GeneticVariation UNIPROT
dbSNP: rs587776665
rs587776665
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C2239176
Disease:
Liver carcinoma
C 0.700 CausalMutation CLINVAR
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE <i>CASP8</i> rs3834129 (-652 6N insertion/deletion) Polymorphism and Colorectal Cancer Susceptibility: An Updated Meta-Analysis. 30519316 2018
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0017638
Disease:
Glioma
0.020 GeneticVariation BEFREE D302H polymorphism of CASP8 gene may be associated with increased risk of glioma but larger study groups in different ethnic populations are needed to better elucidate the role of CASP8 gene polymorphism in the pathogenesis of primary brain tumors. 26359420 2016
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0750974
Disease:
Brain Tumor, Primary
0.020 GeneticVariation BEFREE D302H polymorphism of CASP8 gene may be associated with increased risk of glioma but larger study groups in different ethnic populations are needed to better elucidate the role of CASP8 gene polymorphism in the pathogenesis of primary brain tumors. 26359420 2016
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006826
Disease:
Malignant Neoplasms
0.050 GeneticVariation BEFREE A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. 20086182 2010
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1306459
Disease:
Primary malignant neoplasm
0.040 GeneticVariation BEFREE A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. 20086182 2010
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C3887461
Disease:
Head and Neck Carcinoma
0.010 GeneticVariation BEFREE A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. 20086182 2010
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0278996
Disease:
Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. 20086182 2010
dbSNP: rs10931936
rs10931936
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE A dose-dependent association was observed between the risk of breast cancer and the genetic risk score, which was an aggregate measure of alleles in seven selected variants, namely FGFR2-rs2981579, TOX3/TNRC9-rs3803662, C6orf97-rs2046210, 8q24-rs13281615, SLC4A7-rs4973768, LSP1-rs38137198, and CASP8-rs10931936. 22160591 2012
dbSNP: rs10931936
rs10931936
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE A dose-dependent association was observed between the risk of breast cancer and the genetic risk score, which was an aggregate measure of alleles in seven selected variants, namely FGFR2-rs2981579, TOX3/TNRC9-rs3803662, C6orf97-rs2046210, 8q24-rs13281615, SLC4A7-rs4973768, LSP1-rs38137198, and CASP8-rs10931936. 22160591 2012
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors. 25502557 2014
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors. 25502557 2014
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors. 25502557 2014
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors. 25502557 2014
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0014518
Disease:
Toxic Epidermal Necrolysis
0.020 GeneticVariation BEFREE A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (AUS CON)] and 166 affected AT (TEN) participants (87 SA TEN and 79 AUS TEN) were genotyped for four variants [CASP8 (rs384129), CASP8 (rs1045485), NOS3 (rs1799983), and NOS2 (rs2779249)]. 22588838 2012
dbSNP: rs3769821
rs3769821
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.710 GeneticVariation BEFREE Also, the C allele of rs3769821 was associated with a 43% increased risk of breast cancer (P = 0.005); however, after adjustment for confounding factors, no association with rs3769821 and breast cancer was observed. 31257627 2019
dbSNP: rs3769821
rs3769821
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Also, the C allele of rs3769821 was associated with a 43% increased risk of breast cancer (P = 0.005); however, after adjustment for confounding factors, no association with rs3769821 and breast cancer was observed. 31257627 2019
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1960398
Disease:
HER2-positive carcinoma of breast
0.010 GeneticVariation BEFREE Although hormone receptors and the molecular profile did not indicate any significant association with different genotypes (P > .05), patients with CC genotype of rs1045485 were more likely to have HER2-positive breast cancer than those with GG genotype (odds ratio [OR], 2.93; 95% confidence interval [CI], 1.0 4-8.26). 31362911 2019
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Among the 11 polymorphisms, only CASP8 rs3834129 (-652 6N ins/del) modified HCC risk. 28643196 2017
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. 16251207 2006
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. 16251207 2006
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. 16251207 2006
dbSNP: rs59308963
rs59308963
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0600139
Disease:
Prostate carcinoma
T 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018