MUC2, mucin 2, oligomeric mucus/gel-forming, 4583

N. diseases: 225; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7934606
rs7934606
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		0.810 GeneticVariation BEFREE Additionally, rs7934606 in MUC2 (OR = 1.24, CI 95 % 1.01 to 1.52, p value = 0.037) was associated with SSc-ILD defined by imaging. 26792595 2016
dbSNP: rs7934606
rs7934606
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		T 0.810 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs7934606
rs7934606
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		T 0.810 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs10902088
rs10902088
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		C 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs2071174
rs2071174
Entrez Id: 4583;107987157
Gene Symbol: MUC2;LOC107987157
MUC2;LOC107987157
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs6421972
rs6421972
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		T 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs7396030
rs7396030
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		A 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs7480563
rs7480563
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		C 0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
dbSNP: rs7927765
rs7927765
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs561901401
rs561901401
Entrez Id: 4583;107987157
Gene Symbol: MUC2;LOC107987157
MUC2;LOC107987157
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE To gain insight into the disease mechanisms involved, we generated a knock-in mouse (KI) model, carrying the well documented HCM-causing CSRP3 mutation C58G. 30048712 2018
dbSNP: rs561901401
rs561901401
Entrez Id: 4583;107987157
Gene Symbol: MUC2;LOC107987157
MUC2;LOC107987157
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 30048712 2018
dbSNP: rs745428980
rs745428980
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 30048712 2018
dbSNP: rs745428980
rs745428980
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation BEFREE To gain insight into the disease mechanisms involved, we generated a knock-in mouse (KI) model, carrying the well documented HCM-causing CSRP3 mutation C58G. 30048712 2018
dbSNP: rs7934606
rs7934606
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0036421
Disease:
Systemic Scleroderma 		0.010 GeneticVariation BEFREE Additionally, rs7934606 in MUC2 (OR = 1.24, CI 95 % 1.01 to 1.52, p value = 0.037) was associated with SSc-ILD defined by imaging. 26792595 2016
dbSNP: rs10794288
rs10794288
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0014175
Disease:
Endometriosis 		0.010 GeneticVariation BEFREE MUC2 polymorphisms, especially rs10794288 and rs10902088, are associated with endometriosis as well as endometriosis-related infertility. 22417007 2012
dbSNP: rs10902088
rs10902088
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0014175
Disease:
Endometriosis 		0.010 GeneticVariation BEFREE MUC2 polymorphisms, especially rs10794288 and rs10902088, are associated with endometriosis as well as endometriosis-related infertility. 22417007 2012
dbSNP: rs11245954
rs11245954
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0014175
Disease:
Endometriosis 		0.010 GeneticVariation BEFREE Genotyping of six SNPs (rs2856111, rs11245936, rs10794288, rs10902088, rs7103978 and rs11245954) within MUC2 gene were performed by using Taqman genotyping assay; individual SNP and haplotype associations with endometriosis and endometriosis-related infertility were assessed by χ² test. 22417007 2012
dbSNP: rs11825977
rs11825977
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0010346
Disease:
Crohn Disease 		0.010 GeneticVariation BEFREE Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. 17058067 2006
dbSNP: rs11825977
rs11825977
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
CUI: C0009324
Disease:
Ulcerative Colitis 		0.010 GeneticVariation BEFREE Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD and for MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC. 17058067 2006