MUC1, mucin 1, cell surface associated, 4582

N. diseases: 552; N. variants: 18
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1454328441
rs1454328441
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE A common set of genes dysregulated in lung cancer was obtained, including BPA1, DUSP6, ASCL1, RNAS1 and S100P. p63 and CK 5/6 p63 are useful for differentiating adenocarcinoma and small cell lung cancer from squamous cell carcinoma. 20332665 2010
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: rs1454328441
rs1454328441
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1332243
Disease:
Adenocarcinoma of ampulla of Vater
0.010 GeneticVariation BEFREE Additionally, we compared the expression rates of CK7, CK20, MUC1, MUC2, MUC5AC, MUC6, S100P, and CDX2 between the 2 main histologic subtypes of ampullary adenocarcinoma (NCC2019-0138).The patients who underwent PD for ampullary cancer were divided into 2 groups: very early recurrence and others. 31689805 2019
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE Based on these findings, we conclude that rs4072037 does not have a significant impact on the pathogenesis or prognosis of lung ADC, whereas serum KL-6 levels, which might reflecting the molecular length of MUC1, are significantly associated with lung ADC. 28403862 2017
dbSNP: rs777772044
rs777772044
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE To this aim, we selected four AR missense mutations associated with isolated male infertility (L547F and two novel mutations A474V and S650G) or partial AIS (Y571H). 17970778 2008
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: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.020 GeneticVariation BEFREE In the present study, we have evaluated stage specific expression patterns of mucins during mouse PC progression in (Kras(G12D);Pdx1-Cre (KC)) murine PC model from pancreatic intraepithelial neoplasia (PanIN) to pancreatic ductal adenocarcinoma (PDAC) by immunohistochemistry and quantitative real-time PCR. 23102107 2012
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
dbSNP: rs766333007
rs766333007
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.020 GeneticVariation BEFREE In the present study, we have evaluated stage specific expression patterns of mucins during mouse PC progression in (Kras(G12D);Pdx1-Cre (KC)) murine PC model from pancreatic intraepithelial neoplasia (PanIN) to pancreatic ductal adenocarcinoma (PDAC) by immunohistochemistry and quantitative real-time PCR. 23102107 2012
dbSNP: rs191544901
rs191544901
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC. 23532108 2013
dbSNP: rs763861742
rs763861742
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC. 23532108 2013
dbSNP: rs1454328441
rs1454328441
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Of the 168 genes that were changed in asthma, several biological processes were overrepresented, with 25 genes involved in "immune system processes". qPCR confirmed that S100P, S100A16, MAL and MUC1 were significantly increased in the asthma group post-meal. 26751474 2016
dbSNP: rs753535070
rs753535070
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE MUC1 568 A/G genotype-dependent cancer antigen 15-3 levels in breast cancer patients. 19121298 2009
dbSNP: rs1454328441
rs1454328441
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0262401
Disease:
Carcinoma of ampulla of Vater
0.010 GeneticVariation BEFREE Additionally, we compared the expression rates of CK7, CK20, MUC1, MUC2, MUC5AC, MUC6, S100P, and CDX2 between the 2 main histologic subtypes of ampullary adenocarcinoma (NCC2019-0138).The patients who underwent PD for ampullary cancer were divided into 2 groups: very early recurrence and others. 31689805 2019
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE In contrast, the association between rs4072037, a single nucleotide polymorphism in MUC1, and lung cancer has not been well studied. 28403862 2017
dbSNP: rs763569821
rs763569821
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0206698
Disease:
Cholangiocarcinoma
0.010 GeneticVariation BEFREE However, the frequency of primary liver carcinoma (PLC) with biliary differentiation, such as cholangiocarcinoma (CC) and combined hepatocholangiocarcinoma (CHCC), in GH remains unclear We analyzed the histologic type of 20 PLCs occurring in the background of GH; all patients were homozygotic for the C282Y mutation. 11710692 2001
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Overall, in the present study SNPs of PSCA (rs2294008, rs2976392), MUC1 (rs4072037) and PLCE1 (rs2274223) genes were not associated with the presence of CRC. 26320491 2015
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: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE To test our hypothesis, we crossed MUC1 transgenic mice, which express human MUC1 under the endogenous promoter, with the loxP-Stop-loxP-Kras(G12D/+) (Kras) mice, in which endometriosis can be induced through Cre-loxP recombination. 19841240 2010
dbSNP: rs766333007
rs766333007
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE To test our hypothesis, we crossed MUC1 transgenic mice, which express human MUC1 under the endogenous promoter, with the loxP-Stop-loxP-Kras(G12D/+) (Kras) mice, in which endometriosis can be induced through Cre-loxP recombination. 19841240 2010
dbSNP: rs760149442
rs760149442
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1865349
Disease:
Ethylmalonic encephalopathy
0.010 GeneticVariation BEFREE Finally, the 625G-->A single nucleotide polymorphism in the gene encoding the short chain acyl-coenzyme A dehydrogenase (SCAD) was previously proposed as a co-factor in the aetiology of EE and other EMA syndromes. 16183799 2006
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: 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: C0017152
Disease:
Gastritis
0.010 GeneticVariation BEFREE Polymorphisms of PSCA (rs2976392, rs2294008) and MUC1 (rs4072037) genes are associated with GC and HRAG. 25503145 2014
dbSNP: rs1474676145
rs1474676145
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C4020705
Disease:
Glomerulocystic kidney disease
0.010 GeneticVariation BEFREE The Cys300Gly mutation was found in the family presenting with a GCKD phenotype. 15983957 2005