MUC1, mucin 1, cell surface associated, 4582

N. diseases: 594; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
A 0.800 GeneticVariation GWASCAT A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 20729852 2010
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0014859
Disease:
Esophageal Neoplasms
A 0.700 GeneticVariation GWASDB A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 20729852 2010
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE The SNPs rs2070803 and rs4072037 in MUC1 might be used to identify individuals at risk for this type of gastric cancer. 21070779 2011
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE The SNPs rs2070803 and rs4072037 in MUC1 might be used to identify individuals at risk for this type of gastric cancer. 21070779 2011
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE We found that rs4072037 at 1q22 and rs2274223 at 10q23 were significantly associated with risk of GC with per allele odds ratio (OR) of 0.72 [95% confidence interval (CI): 0.63-0.81; P = 2.98 × 10(-7)] and 1.42 (95% CI: 1.27-1.58; P = 9.68 × 10(-10)), respectively. 21427165 2011
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE We found that rs4072037 at 1q22 and rs2274223 at 10q23 were significantly associated with risk of GC with per allele odds ratio (OR) of 0.72 [95% confidence interval (CI): 0.63-0.81; P = 2.98 × 10(-7)] and 1.42 (95% CI: 1.27-1.58; P = 9.68 × 10(-10)), respectively. 21427165 2011
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE Imputation analyses also confirmed previously reported associations of rs2294008 and rs2976392 on 8q24, rs4072037 on 1q22 and rs13042395 on 20p13 with non-cardia gastric cancer susceptibility in the Han Chinese population. 22037551 2011
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Imputation analyses also confirmed previously reported associations of rs2294008 and rs2976392 on 8q24, rs4072037 on 1q22 and rs13042395 on 20p13 with non-cardia gastric cancer susceptibility in the Han Chinese population. 22037551 2011
dbSNP: rs1464894231
rs1464894231
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE DNA extracted from the tumor identified a BRAF V600E mutation in exon 15 and a BRAF G468A mutation in exon 11, whereas DNA from non-tumorous cells did not contain a mutation. 22192803 2012
dbSNP: rs764097944
rs764097944
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE DNA extracted from the tumor identified a BRAF V600E mutation in exon 15 and a BRAF G468A mutation in exon 11, whereas DNA from non-tumorous cells did not contain a mutation. 22192803 2012
dbSNP: rs761613959
rs761613959
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0403397
Disease:
Steroid-resistant nephrotic syndrome
0.010 GeneticVariation BEFREE In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome. 22578956 2012
dbSNP: rs761613959
rs761613959
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0017668
Disease:
Focal glomerulosclerosis
0.010 GeneticVariation BEFREE The prevalence of p.P20L polymorphism was not significantly different among the groups (6 % in FSGS patients, 1.8 % in IGAN patients, 1 % in the control group). 22578956 2012
dbSNP: rs761613959
rs761613959
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C3266102
Disease:
Steroid resistant nephrotic syndrome of childhood
0.010 GeneticVariation BEFREE In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome. 22578956 2012
dbSNP: rs761613959
rs761613959
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C4049702
Disease:
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
0.010 GeneticVariation BEFREE The prevalence of p.P20L polymorphism was not significantly different among the groups (6 % in FSGS patients, 1.8 % in IGAN patients, 1 % in the control group). 22578956 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE Recently, a genome-wide association study of gastric cancer (GC) reported the significant association of seven genetic variants (rs4072037 and rs4460629 on 1q22; rs753724, rs11187842, rs3765524, rs2274223, and rs3781264 on 10q23) with GC in a Chinese population. 22740136 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Recently, a genome-wide association study of gastric cancer (GC) reported the significant association of seven genetic variants (rs4072037 and rs4460629 on 1q22; rs753724, rs11187842, rs3765524, rs2274223, and rs3781264 on 10q23) with GC in a Chinese population. 22740136 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE The two SNPs located on 1q22 (rs4072037 and rs4460629) showed a weak association with CRC. 22740136 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE Our findings for rs4072037 and the risk of GC are in agreement with one previous report for a Caucasian population. 22805490 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Our findings for rs4072037 and the risk of GC are in agreement with one previous report for a Caucasian population. 22805490 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first study to report an association between rs2274223 and rs4072037 and the risk of oesophageal squamous cell carcinoma in a Caucasian population. 22805490 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. 22805490 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE Two SNPs at 1q22, rs4072037 and rs4460629, were significantly associated with a reduced risk of GC, best fitting the dominant genetic model. 22938415 2012
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Two SNPs at 1q22, rs4072037 and rs4460629, were significantly associated with a reduced risk of GC, best fitting the dominant genetic model. 22938415 2012
dbSNP: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.020 GeneticVariation BEFREE We also show that Pdx1-Cre/LSL-Kras(G12D)/Smad4(lox/lox) mice heterozygous for Agr2 exhibit a delay in mPanIN initiation and progression to PDAC. 22945649 2013
dbSNP: rs766333007
rs766333007
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.020 GeneticVariation BEFREE We also show that Pdx1-Cre/LSL-Kras(G12D)/Smad4(lox/lox) mice heterozygous for Agr2 exhibit a delay in mPanIN initiation and progression to PDAC. 22945649 2013