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: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0235974
Disease:
Pancreatic carcinoma
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: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0235974
Disease:
Pancreatic carcinoma
0.020 GeneticVariation BEFREE Spontaneous mouse model of PC (K-ras(G12D); Pdx-1cre) showed early expression of Ncoa3 during pre-neoplastic lesions. 25531332 2015
dbSNP: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
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: 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: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE Spontaneous mouse model of PC (K-ras(G12D); Pdx-1cre) showed early expression of Ncoa3 during pre-neoplastic lesions. 25531332 2015
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: 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: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0476073
Disease:
Papillary neoplasm
0.010 GeneticVariation BEFREE Concomitant pancreatic activation of Kras(G12D) and Tgfa results in cystic papillary neoplasms reminiscent of human IPMN. 17785207 2007
dbSNP: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1335302
Disease:
Pancreatic Ductal Adenocarcinoma
0.010 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: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0346976
Disease:
Secondary malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE We show that concomitant expression of TGFalpha and Kras(G12D) accelerates the progression of mPanIN lesions to metastatic pancreatic cancer and leads to the development of cystic papillary lesions resembling human intraductal papillary mucinous neoplasms (IPMN). 17785207 2007
dbSNP: rs1037189404
rs1037189404
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1301034
Disease:
Pancreatic intraepithelial neoplasia
0.010 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: rs1252688154
rs1252688154
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The present studies demonstrate that silencing MUC1-C in A549/KRAS(G12S) and H460/KRAS(Q61H) NSCLC cells is associated with downregulation of AKT signaling and inhibition of growth. 25245423 2014
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: rs1454328441
rs1454328441
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0007137
Disease:
Squamous cell carcinoma
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: 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: rs1454328441
rs1454328441
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0149925
Disease:
Small cell carcinoma of lung
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: 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: 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: 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: 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
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: rs191544901
rs191544901
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C4511687
Disease:
Pancreatic Intraductal Papillary Mucinous Neoplasm
0.010 GeneticVariation BEFREE However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC. 23532108 2013
dbSNP: rs375294990
rs375294990
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The present studies demonstrate that silencing MUC1-C in A549/KRAS(G12S) and H460/KRAS(Q61H) NSCLC cells is associated with downregulation of AKT signaling and inhibition of growth. 25245423 2014
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0373675
Disease:
Magnesium measurement
C 0.800 GeneticVariation GWASDB Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. 20700443 2010
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