DDX5, DEAD-box helicase 5, 1655

N. diseases: 77; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1140409
rs1140409
Entrez Id: 1655;100616387
Gene Symbol: DDX5;MIR3064
DDX5;MIR3064
CUI: C1623038
Disease:
Cirrhosis 		0.010 GeneticVariation BEFREE We recently identified a missense single nucleotide polymorphism (SNP) in DDX5 (rs1140409, p.S480A) that enhances the risk of developing cirrhosis. 20022962 2010
dbSNP: rs1140409
rs1140409
Entrez Id: 1655;100616387
Gene Symbol: DDX5;MIR3064
DDX5;MIR3064
CUI: C0023890
Disease:
Liver Cirrhosis 		0.010 GeneticVariation BEFREE We recently identified a missense single nucleotide polymorphism (SNP) in DDX5 (rs1140409, p.S480A) that enhances the risk of developing cirrhosis. 20022962 2010
dbSNP: rs1991401
rs1991401
Entrez Id: 1655;90799
Gene Symbol: DDX5;CEP95
DDX5;CEP95
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1991401
rs1991401
Entrez Id: 1655;90799
Gene Symbol: DDX5;CEP95
DDX5;CEP95
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. 21766210 2011
dbSNP: rs1991401
rs1991401
Entrez Id: 1655;90799
Gene Symbol: DDX5;CEP95
DDX5;CEP95
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associated with breast cancer risk. 21766210 2011
dbSNP: rs1991401
rs1991401
Entrez Id: 1655;90799
Gene Symbol: DDX5;CEP95
DDX5;CEP95
CUI: C0751690
Disease:
Malignant Peripheral Nerve Sheath Tumor 		0.010 GeneticVariation BEFREE Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. 23763827 2013
dbSNP: rs77672322
rs77672322
Entrez Id: 1655;100616387;100616408
Gene Symbol: DDX5;MIR3064;MIR5047
DDX5;MIR3064;MIR5047
CUI: C0042834
Disease:
Vital capacity 		T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019