UNG, uracil DNA glycosylase, 7374

N. diseases: 66; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894380
rs104894380
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C1720958
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 5
0.800 GeneticVariation UNIPROT B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. 15967827 2005
dbSNP: rs104894380
rs104894380
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C1720958
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 5
0.800 GeneticVariation UNIPROT Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. 12958596 2003
dbSNP: rs104894380
rs104894380
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C1720958
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 5
C 0.800 CausalMutation CLINVAR
dbSNP: rs772214871
rs772214871
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C1720958
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs2337395
rs2337395
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE To investigate the association between the g.4235T>C (rs2337395) polymorphism of the UNG gene and the c.-31A>G (rs3087404) polymorphism of the SMUG1 gene and the risk of age-related macular degeneration (AMD), as well as modulation of this association by some environmental and lifestyle factors. 23714858 2014
dbSNP: rs2337395
rs2337395
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE We observed that the g.4235T>C (rs2337395) and c.-32A>G (rs3087404) polymorphisms in two genes encoding such glycosylases, UNG and SMUG1, respectively, could be associated with the occurrence of AMD. 23202958 2012
dbSNP: rs2569987
rs2569987
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE The significant variants present only in CE and TC from LOAD are UNG rs2569987 and POLβ rs1012381950, respectively. 31415677 2019
dbSNP: rs3890995
rs3890995
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Multiplicative interaction of rs2267401-G allele with rs389</span>0995-C allele increased HCC risk, with an adjusted OR (95% confidence interval) of 1.90 (1.34-2.81). rs2267401 T-to-G and rs3890995 T-to-C conferred increased activities of <i>APOBEC3B</i> promoter and <i>UNG</i> enhancer, respectively. 31152021 2019
dbSNP: rs80001089
rs80001089
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE There is also significant epistatic relationship (p = 0.0410) between UNG rs80001089 and NEIL1 rs7182283 in TC from LOAD subjects. 31415677 2019
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE Our data clearly suggest an association between UNG rs246079 (A/G) and CSCC carcinogenesis, supporting the potential application of this polymorphism as a genetic biomarker for early prediction of cervical carcinoma. 30572497 2018
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0206708
Disease:
Cervical Intraepithelial Neoplasia
0.010 GeneticVariation BEFREE Modified polymerase chain reaction-mismatch amplification (MA-PCR) was applied for genotyping UNG rs3219218 (A/G) and UNG rs246079 (A/G) polymorphisms in 400 CSCC, 400 cervical intraepithelial neoplasia (CIN) III, and 1200 normal controls. 30572497 2018
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0279671
Disease:
Cervical Squamous Cell Carcinoma
0.010 GeneticVariation BEFREE Our data clearly suggest an association between UNG rs246079 (A/G) and CSCC carcinogenesis, supporting the potential application of this polymorphism as a genetic biomarker for early prediction of cervical carcinoma. 30572497 2018
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Our data clearly suggest an association between UNG rs246079 (A/G) and CSCC carcinogenesis, supporting the potential application of this polymorphism as a genetic biomarker for early prediction of cervical carcinoma. 30572497 2018
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0851140
Disease:
Carcinoma in situ of uterine cervix
0.010 GeneticVariation BEFREE At the UNG rs246079</span> (A/G) locus, individuals with the G allele or G carrier (GG + AG) genotype were at higher risk for CIN III (OR = 1.34) and CSCC (OR = 1.55). 30572497 2018
dbSNP: rs3219218
rs3219218
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0206708
Disease:
Cervical Intraepithelial Neoplasia
0.010 GeneticVariation BEFREE Modified polymerase chain reaction-mismatch amplification (MA-PCR) was applied for genotyping UNG rs3219218 (A/G) and UNG rs246079 (A/G) polymorphisms in 400 CSCC, 400 cervical intraepithelial neoplasia (CIN) III, and 1200 normal controls. 30572497 2018
dbSNP: rs3219218
rs3219218
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0279671
Disease:
Cervical Squamous Cell Carcinoma
0.010 GeneticVariation BEFREE The aim of this case-control study was to clarify the relationship between uracil N-glycosylase (UN</span>G) rs321</span>9218 and rs246079 genotypes and risk of cervical squamous cell cancer (CSCC). 30572497 2018
dbSNP: rs3219218
rs3219218
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0851140
Disease:
Carcinoma in situ of uterine cervix
0.010 GeneticVariation BEFREE We observed no association between the UNG rs3219218 (A/G) polymorphism and risk of CIN III or CSCC. 30572497 2018
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0014859
Disease:
Esophageal Neoplasms
0.010 GeneticVariation BEFREE Uracil-DNA glycosylase (UNG) rs246079 G/A polymorphism is associated with decreased risk of esophageal cancer in a Chinese population. 25301111 2014
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0546837
Disease:
Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE Uracil-DNA glycosylase (UNG) rs246079 G/A polymorphism is associated with decreased risk of esophageal cancer in a Chinese population. 25301111 2014
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0152018
Disease:
Esophageal carcinoma
0.010 GeneticVariation BEFREE Uracil-DNA glycosylase (UNG) rs246079 G/A polymorphism is associated with decreased risk of esophageal cancer in a Chinese population. 25301111 2014
dbSNP: rs246079
rs246079
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE In stratification analyses, a significantly decreased risk of ESCC associated with the UNG rs246079 G/A polymorphism was evident among women, younger patients and never-smokers and never-drinkers. 25301111 2014
dbSNP: rs3219218
rs3219218
Entrez Id: 7374
Gene Symbol: UNG
UNG
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE The UNG rs3219218 A/G polymorphism was not associated with the risk for ESCC. 25301111 2014