CASP3, caspase 3, 836

N. diseases: 722; N. variants: 20
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750802459
rs750802459
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder
0.010 GeneticVariation BEFREE Our experimental data confirm previous studies showing the in vitro cell growth inhibition of the transitional cell carcinoma of the bladder cell line HTB9 and further showed the induction of cell cycle arrest at the S/G2-M checkpoints. 10741713 2000
dbSNP: rs964793521
rs964793521
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE The Dutch (E22Q) and Flemish (A21G) mutations in the betaAPP region of the amyloid precursor protein (APP) are associated with familial forms of Alzheimer dementia. 11422442 2001
dbSNP: rs964793521
rs964793521
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C1611743
Disease:
Familial (FPAH)
0.010 GeneticVariation BEFREE The Dutch (E22Q) and Flemish (A21G) mutations in the betaAPP region of the amyloid precursor protein (APP) are associated with familial forms of Alzheimer dementia. 11422442 2001
dbSNP: rs1049216
rs1049216
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE We investigated five single nucleotide polymorphisms in four key caspase genes, CASP3 [Ex8-280C>A (rs6948) and Ex8+567T>C (rs1049216)], CASP8 Ex14-271A>T (rs13113), CASP9 Ex5+32G>A (rs1052576) and CASP10 Ex3-171A>G (rs3900115) to determine whether they alter risk for non-Hodgkin lymphoma (NHL) in a population-based case-control study of women in Connecticut (461 cases and 535 controls). 17071630 2007
dbSNP: rs6948
rs6948
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE We investigated five single nucleotide polymorphisms in four key caspase genes, CASP3 [Ex8-280C>A (rs6948) and Ex8+567T>C (rs1049216)], CASP8 Ex14-271A>T (rs13113), CASP9 Ex5+32G>A (rs1052576) and CASP10 Ex3-171A>G (rs3900115) to determine whether they alter risk for non-Hodgkin lymphoma (NHL) in a population-based case-control study of women in Connecticut (461 cases and 535 controls). 17071630 2007
dbSNP: rs2705901
rs2705901
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The GG genotype of rs2705901 in the caspase-3 gene was significantly associated with increased cancer risk compared with the CC genotype (odds ratio, 2.25; 95% CI, 1.03-4.95). 19531679 2009
dbSNP: rs2705901
rs2705901
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The GG genotype of rs2705901 in the caspase-3 gene was significantly associated with increased cancer risk compared with the CC genotype (odds ratio, 2.25; 95% CI, 1.03-4.95). 19531679 2009
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE These findings support our hypothesis that the presence of the HFE H63D allele enables factors that trigger neurodegenerative processes associated with AD and predisposes cells to cytotoxcity. 20734416 2010
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0027819
Disease:
Neuroblastoma
0.020 GeneticVariation BEFREE In this study, we provide evidence that an Aβ(25-35) fragment, which contains the cytotoxic sequence of the amyloid peptide, activates the intrinsic apoptotic pathway in SH-SY5Y human neuroblastoma cells expressing the HFE allelic variant H63D to a greater extent than in cells with wild-type (WT) HFE. 20734416 2010
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.020 GeneticVariation BEFREE In this study, we provide evidence that an Aβ(25-35) fragment, which contains the cytotoxic sequence of the amyloid peptide, activates the intrinsic apoptotic pathway in SH-SY5Y human neuroblastoma cells expressing the HFE allelic variant H63D to a greater extent than in cells with wild-type (WT) HFE. 20734416 2010
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0700095
Disease:
Central neuroblastoma
0.020 GeneticVariation BEFREE In this study, we provide evidence that an Aβ(25-35) fragment, which contains the cytotoxic sequence of the amyloid peptide, activates the intrinsic apoptotic pathway in SH-SY5Y human neuroblastoma cells expressing the HFE allelic variant H63D to a greater extent than in cells with wild-type (WT) HFE. 20734416 2010
dbSNP: rs111512673
rs111512673
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease
0.010 GeneticVariation BEFREE We have established a Drosophila model of Gerstmann-Sträussler-Scheinker (GSS) syndrome by expressing mouse prion protein (PrP) having leucine substitution at residue 101 (MoPrP(P101L)). 20829230 2010
dbSNP: rs1485215606
rs1485215606
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Searching for mutations in the periphilin gene, we detected a K69E substitution in two patients of a PD family. 19730898 2010
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease. 21349849 2011
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
0.020 GeneticVariation BEFREE Moreover, upon the prolonged ER stress, the number of cells expressing HFE H63D in early apoptosis was increased moderately. 21349849 2011
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease. 21349849 2011
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0524851
Disease:
Neurodegenerative Disorders
0.010 GeneticVariation BEFREE A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease. 21349849 2011
dbSNP: rs1049216
rs1049216
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE Meta-analysis results showed that the homozygote (CC) of rs2705897 in the CASP-3 gene is positively associated with cancer susceptibility [odds ratio (OR) = 4.36, 95% confidence interval (CI) = 1.26-15.11, P = 0.02], while the C allele and C carrier (TC+CC) of rs1049216 are negatively associated with cancer risk (OR = 0.81, 95%CI = 0.69-0.95, P = 0.01; OR = 0.78, 95%CI = 0.63-0.97, P = 0.02, respectively). 23765963 2013
dbSNP: rs1049216
rs1049216
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE Meta-analysis results showed that the homozygote (CC) of rs2705897 in the CASP-3 gene is positively associated with cancer susceptibility [odds ratio (OR) = 4.36, 95% confidence interval (CI) = 1.26-15.11, P = 0.02], while the C allele and C carrier (TC+CC) of rs1049216 are negatively associated with cancer risk (OR = 0.81, 95%CI = 0.69-0.95, P = 0.01; OR = 0.78, 95%CI = 0.63-0.97, P = 0.02, respectively). 23765963 2013
dbSNP: rs2705897
rs2705897
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Meta-analysis results showed that the homozygote (CC) of rs2705897 in the CASP-3 gene is positively associated with cancer susceptibility [odds ratio (OR) = 4.36, 95% confidence interval (CI) = 1.26-15.11, P = 0.02], while the C allele and C carrier (TC+CC) of rs1049216 are negatively associated with cancer risk (OR = 0.81, 95%CI = 0.69-0.95, P = 0.01; OR = 0.78, 95%CI = 0.63-0.97, P = 0.02, respectively). 23765963 2013
dbSNP: rs2705897
rs2705897
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE Meta-analysis results showed that the homozygote (CC) of rs2705897 in the CASP-3 gene is positively associated with cancer susceptibility [odds ratio (OR) = 4.36, 95% confidence interval (CI) = 1.26-15.11, P = 0.02], while the C allele and C carrier (TC+CC) of rs1049216 are negatively associated with cancer risk (OR = 0.81, 95%CI = 0.69-0.95, P = 0.01; OR = 0.78, 95%CI = 0.63-0.97, P = 0.02, respectively). 23765963 2013
dbSNP: rs4647603
rs4647603
Entrez Id: 836;201973
Gene Symbol: CASP3;PRIMPOL
CASP3;PRIMPOL
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE The G allele and G carrier of rs4647603 (A/G) in CASP-3 had positive associations with cancer susceptibility (OR = 1.69, 95%CI = 1.37-2.09, P < 0.001; OR = 1.93, 95%CI = 1.26-2.93, P = 0.002, respectively). 23765963 2013
dbSNP: rs4647603
rs4647603
Entrez Id: 836;201973
Gene Symbol: CASP3;PRIMPOL
CASP3;PRIMPOL
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE The G allele and G carrier of rs4647603 (A/G) in CASP-3 had positive associations with cancer susceptibility (OR = 1.69, 95%CI = 1.37-2.09, P < 0.001; OR = 1.93, 95%CI = 1.26-2.93, P = 0.002, respectively). 23765963 2013
dbSNP: rs1049253
rs1049253
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0278996
Disease:
Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE Second, the rs1049253 CC genotype was associated with reduced levels of CASP3 mRNA in peripheral blood mononuclear cells from 118 SCCHN patients and 103 cancer-free control subjects and lower levels of CASP3 protein expression in 11 head and neck cancer cell lines, compared with the TT genotype. 23271051 2013
dbSNP: rs1049253
rs1049253
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C2678061
Disease:
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 GeneticVariation BEFREE We found that compared with the CASP3 TT genotype of rs1049253, the variant TC/CC genotypes were associated with significantly increased risk of SCCHN (adjusted odds ratio=1.29 and 95% confidence interval=1.07-1.56) and SPM (adjusted hazard ratio=1.79 and 95% CI=1.02-3.16) and worse SPM-free survival (log-rank P = 0.020), but no associations were found for the other 6 SNPs. 23271051 2013