CASP3, caspase 3, 836

N. diseases: 819; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647600
rs4647600
Entrez Id: 836;201973
Gene Symbol: CASP3;PRIMPOL
CASP3;PRIMPOL
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4647600
rs4647600
Entrez Id: 836;201973
Gene Symbol: CASP3;PRIMPOL
CASP3;PRIMPOL
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4647608
rs4647608
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4647614
rs4647614
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4647641
rs4647641
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4647641
rs4647641
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4647665
rs4647665
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4647667
rs4647667
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1049216
rs1049216
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE The results did not support an association between CASP3 rs1049216 and rs6948 polymorphisms and cancer risk. 30368918 2018
dbSNP: rs1049216
rs1049216
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE The results did not support an association between CASP3 rs1049216 and rs6948 polymorphisms and cancer risk. 30368918 2018
dbSNP: rs1049216
rs1049216
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE These data indicate that through upregulating the expression of caspase-3, the TT genotype of caspase-3 rs1049216 can be associated with not only the risk of cervical cancer but also the progression of this cancer. 28114230 2017
dbSNP: rs1049216
rs1049216
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE These data indicate that through upregulating the expression of caspase-3, the TT genotype of caspase-3 rs1049216 can be associated with not only the risk of cervical cancer but also the progression of this cancer. 28114230 2017
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE These results indicate that the alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD. 24439478 2014
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: 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: 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: rs2705897
rs2705897
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE The findings suggested that the rs2705897 variant significantly decreased the risk of cancer in heterozygous codominant (OR, 0.80; 95% CI, 0.67-0.94; P = 0.009; AC vs AA), dominant (OR, 0.81; 95% CI, 0.69-0.95; P = 0.009; AC+CC vs AA), overdominant (OR, 0.80; 95% CI, 0.68-0.95; P = 0.01; AC vs CC+AA), and allele (OR, 0.85; 95% CI, 0.74-0.97; P = 0.02; C vs A) models. 30368918 2018
dbSNP: rs2705897
rs2705897
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE The findings suggested that the rs2705897 variant significantly decreased the risk of cancer in heterozygous codominant (OR, 0.80; 95% CI, 0.67-0.94; P = 0.009; AC vs AA), dominant (OR, 0.81; 95% CI, 0.69-0.95; P = 0.009; AC+CC vs AA), overdominant (OR, 0.80; 95% CI, 0.68-0.95; P = 0.01; AC vs CC+AA), and allele (OR, 0.85; 95% CI, 0.74-0.97; P = 0.02; C vs A) models. 30368918 2018
dbSNP: rs4647603
rs4647603
Entrez Id: 836;201973
Gene Symbol: CASP3;PRIMPOL
CASP3;PRIMPOL
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE The rs4647603 variant significantly increased the risk of cancer in an overdominant (OR, 1.44; 95% CI, 1.03-2.01; P = 0.03; AG vs AA+GG) inheritance model. 30368918 2018
dbSNP: rs4647603
rs4647603
Entrez Id: 836;201973
Gene Symbol: CASP3;PRIMPOL
CASP3;PRIMPOL
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE The rs4647603 variant significantly increased the risk of cancer in an overdominant (OR, 1.44; 95% CI, 1.03-2.01; P = 0.03; AG vs AA+GG) inheritance model. 30368918 2018
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
0.020 GeneticVariation BEFREE H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment. 24439478 2014
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0027819
Disease:
Neuroblastoma
0.020 GeneticVariation BEFREE Analysis of SH-SY5Y human neuroblastoma cells transfected to stably express either wild type- (WT) or H63D-HFE indicated about a 50% reduction in cholesterol content in cells expressing H63D-HFE. 24439478 2014
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.020 GeneticVariation BEFREE Analysis of SH-SY5Y human neuroblastoma cells transfected to stably express either wild type- (WT) or H63D-HFE indicated about a 50% reduction in cholesterol content in cells expressing H63D-HFE. 24439478 2014
dbSNP: rs1424266770
rs1424266770
Entrez Id: 836
Gene Symbol: CASP3
CASP3
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.020 GeneticVariation BEFREE Our findings indicate H63D HFE modifies ALS pathophysiology via pathways involving oxidative stress, gliosis and disruption of cellular functions. 25283820 2014