CLDN1, claudin 1, 9076

N. diseases: 234; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309516
rs864309516
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C1843355
Disease:
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
C 0.700 CausalMutation CLINVAR
dbSNP: rs864309517
rs864309517
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C1843355
Disease:
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
A 0.700 CausalMutation CLINVAR
dbSNP: rs17501010
rs17501010
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE For patients with type 2 diabetes the odds ratio of VaD increased significantly in GC+CC genotypes of rs893051 (OR=12.57, P<0.0001) and GT+TT of rs17501010 (OR=5.33, P=0.01). 28273404 2017
dbSNP: rs17501010
rs17501010
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0011269
Disease:
Dementia, Vascular
0.010 GeneticVariation BEFREE For patients with type 2 diabetes the odds ratio of VaD increased significantly in GC+CC genotypes of rs893051 (OR=12.57, P<0.0001) and GT+TT of rs17501010 (OR=5.33, P=0.01). 28273404 2017
dbSNP: rs893051
rs893051
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C0011269
Disease:
Dementia, Vascular
0.010 GeneticVariation BEFREE For patients with type 2 diabetes the odds ratio of VaD increased significantly in GC+CC genotypes of rs893051 (OR=12.57, P<0.0001) and GT+TT of rs17501010 (OR=5.33, P=0.01). 28273404 2017
dbSNP: rs893051
rs893051
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C0154251
Disease:
Lipid Metabolism Disorders
0.010 GeneticVariation BEFREE Stratification analysis revealed that having combined haplotype GC+CC of rs893051 and lipid disorders was associated with higher risk of VaD (OR=9.9, P<0.001). 28273404 2017
dbSNP: rs893051
rs893051
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE For patients with type 2 diabetes the odds ratio of VaD increased significantly in GC+CC genotypes of rs893051 (OR=12.57, P<0.0001) and GT+TT of rs17501010 (OR=5.33, P=0.01). 28273404 2017
dbSNP: rs140846629
rs140846629
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Further, sequence analysis of the tumor genomic DNA revealed SNPs in 3 of the 4 coding exons, including a rare missense SNP (rs140846629) in exon 2 which represents an Ala124Thr substitution. 27649506 2016
dbSNP: rs17501010
rs17501010
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0013595
Disease:
Eczema
0.010 GeneticVariation BEFREE To investigate how CLDN1 variants may be involved in increasing the risk of AD in the Ethiopian population, we analysed whole exome sequencing (WES) data for all exons in CLDN1, and in addition, assayed four SNPs (rs17501010, rs9290927, rs9290929 and rs893051) which had previously showed association in African-American AD patients. 27581203 2016
dbSNP: rs17501010
rs17501010
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0011615
Disease:
Dermatitis, Atopic
0.010 GeneticVariation BEFREE To investigate how CLDN1 variants may be involved in increasing the risk of AD in the Ethiopian population, we analysed whole exome sequencing (WES) data for all exons in CLDN1, and in addition, assayed four SNPs (rs17501010, rs9290927, rs9290929 and rs893051) which had previously showed association in African-American AD patients. 27581203 2016
dbSNP: rs893051
rs893051
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C0011615
Disease:
Dermatitis, Atopic
0.010 GeneticVariation BEFREE However, significant association was seen for rs893051 in patients who developed AD before the age of 5 years (P < 0.03). 27581203 2016
dbSNP: rs893051
rs893051
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C0013595
Disease:
Eczema
0.010 GeneticVariation BEFREE However, significant association was seen for rs893051 in patients who developed AD before the age of 5 years (P < 0.03). 27581203 2016
dbSNP: rs893051
rs893051
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE We also observed a decreased HCV susceptibility in individuals with higher HDL-C levels who carried the CLDN1 rs893051 G/C genotype. 25934191 2015
dbSNP: rs9869263
rs9869263
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The CLDN1 rs9869263 genotype (c.369C>T) was related to increased risk of colon cancer, and the CLDN7 rs4562 genotype (c.590C>T) was related to tumor differentiation and lymph node involvement in colon carcinoma. 24479816 2014
dbSNP: rs9869263
rs9869263
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE The CLDN1 rs9869263 genotype (c.369C>T) was related to increased risk of colon cancer, and the CLDN7 rs4562 genotype (c.590C>T) was related to tumor differentiation and lymph node involvement in colon carcinoma. 24479816 2014
dbSNP: rs9869263
rs9869263
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE The CLDN1 rs9869263 genotype (c.369C>T) was related to increased risk of colon cancer, and the CLDN7 rs4562 genotype (c.590C>T) was related to tumor differentiation and lymph node involvement in colon carcinoma. 24479816 2014
dbSNP: rs17501010
rs17501010
Entrez Id: 9076;107986170
Gene Symbol: CLDN1;LOC107986170
CLDN1;LOC107986170
CUI: C0011616
Disease:
Contact Dermatitis
0.010 GeneticVariation BEFREE The CLDN1 polymorphisms rs9290927, rs893051 and rs17501010 were associated, respectively, with nickel contact sensitization in individuals without ear piercings, contact sensitization to fragrances, and with both organic compounds and nickel contact dermatitis. 23136956 2013
dbSNP: rs893051
rs893051
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1
CUI: C0011616
Disease:
Contact Dermatitis
0.010 GeneticVariation BEFREE The CLDN1 polymorphisms rs9290927, rs893051 and rs17501010 were associated, respectively, with nickel contact sensitization in individuals without ear piercings, contact sensitization to fragrances, and with both organic compounds and nickel contact dermatitis. 23136956 2013