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: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE <b>Conclusion:</b> MUC1 rs4072037 polymorphism is associated with decreased cancer risk and can probably be used as a tumor marker, especially for gastric cancer and for Asians. 30271495 2018
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: 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: 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: 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: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0206062
Disease:
Lung Diseases, Interstitial
0.010 GeneticVariation BEFREE Because of differences in the genotype distribution of rs4072037, the KL-6 cutoff value for the German cohort that discriminated patients with ILDs from HS was significantly higher than the value in the Japanese cohort. 22995277 2012
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: 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: 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: 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: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE For MUC1 SNP, rs4072037, women homozygous for the G variant had a non-significantly decreased risk for serous invasive types but elevated risk for serous borderline tumors, mucinous borderline and invasive tumors, and endometrioid tumors. 24551091 2014
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE Further, subgroup analysis based on ethnicity suggested MUC1 rs4072037 polymorphism had a subtly reduced cancer risk among Asian population, and stratified analysis by cancer types showed significantly decreased risk of gastric cancer in all genetic models. 24755768 2014
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Further, subgroup analysis based on ethnicity suggested MUC1 rs4072037 polymorphism had a subtly reduced cancer risk among Asian population, and stratified analysis by cancer types showed significantly decreased risk of gastric cancer in all genetic models. 24755768 2014
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0699791
Disease:
Stomach Carcinoma
0.800 GeneticVariation BEFREE Genetic variant rs4072037 of MUC1 and gastric cancer risk in an Eastern Chinese population. 26910281 2016
dbSNP: rs4072037
rs4072037
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Genetic variant rs4072037 of MUC1 and gastric cancer risk in an Eastern Chinese population. 26910281 2016
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: rs763861742
rs763861742
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: 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: 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