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: 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: rs763569821
rs763569821
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma
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: rs763569821
rs763569821
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1840311
Disease:
Laryngeal cleft
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: rs763569821
rs763569821
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0392514
Disease:
Hereditary hemochromatosis
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: 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: 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: rs760149442
rs760149442
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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: 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: 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: rs766333007
rs766333007
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: rs766333007
rs766333007
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: rs777772044
rs777772044
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0021364
Disease:
Male infertility
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: 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: 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: rs753535070
rs753535070
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C1458155
Disease:
Mammary Neoplasms
0.010 GeneticVariation BEFREE The MUC1 568 A/G polymorphism strongly influences CA 15-3 levels in healthy women and women with either benign or malignant breast tumors. 19121298 2009
dbSNP: rs753535070
rs753535070
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE MUC1 568 A/G genotype-dependent cancer antigen 15-3 levels in breast cancer patients. 19121298 2009
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: rs753535070
rs753535070
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE Risk of gastric cancer is associated with the MUC1 568 A/G polymorphism. 19885554 2009
dbSNP: rs753535070
rs753535070
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE Risk of gastric cancer is associated with the MUC1 568 A/G polymorphism. 19885554 2009
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: 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: C0373675
Disease:
Magnesium measurement
C 0.800 GeneticVariation GWASCAT Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. 20700443 2010