KEAP1, kelch like ECH associated protein 1, 9817

N. diseases: 251; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35074907
rs35074907
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0020676
Disease:
Hypothyroidism
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs35074907
rs35074907
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0009324
Disease:
Ulcerative Colitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs35074907
rs35074907
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0038013
Disease:
Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs35074907
rs35074907
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0010346
Disease:
Crohn Disease
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs35074907
rs35074907
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0008313
Disease:
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs35074907
rs35074907
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0033860
Disease:
Psoriasis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs1048290
rs1048290
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE In our population, a significant associations of KEAP1 (rs1048290) (P = 0.0015, OR = 0.72 in additive model), HSPA1A (rs1008438) (P = 0.006, OR = 2.26 in recessive model), GSR (rs1002149) (P = 0.037, OR = 1.31 in additive model) with COPD were revealed. 30641209 2019
dbSNP: rs1048290
rs1048290
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE KEAP1-NRF2 in</span>teraction analysis revealed that the rs6721961, rs35652124, rs1048290</span>, and rs11545829 conferred the susceptibility to CRC. 30825237 2019
dbSNP: rs11545829
rs11545829
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE KEAP1-NRF2 interaction analysis revealed that the rs6721961, rs35652124, rs1048290, and rs11545829 conferred the susceptibility to CRC. 30825237 2019
dbSNP: rs11085735
rs11085735
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE rs34197572 genotype TT was associated with increased risk of breast cancer in the KBCP samples [P = 1.8×10(-4); OR, 7.314; confidence interval (CI), 2.185-24.478]. rs11085735 allele A was associated with lower KEAP1 protein expression (P = 0.040; OR,= 3.545) and high nuclear NRF2 expression (P = 0.009; OR, 2.445) and worse survival in all invasive cases (P = 0.023; HR, 1.634). 25589623 2015
dbSNP: rs11085735
rs11085735
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE rs34197572 genotype TT was associated with increased risk of breast cancer in the KBCP samples [P = 1.8×10(-4); OR, 7.314; confidence interval (CI), 2.185-24.478]. rs11085735 allele A was associated with lower KEAP1 protein expression (P = 0.040; OR,= 3.545) and high nuclear NRF2 expression (P = 0.009; OR, 2.445) and worse survival in all invasive cases (P = 0.023; HR, 1.634). 25589623 2015
dbSNP: rs1048290
rs1048290
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE Keap1 single nucleotide polymorphism rs1048290 may be a novel independent prognostic marker for patients with endometrial cancer receiving adjuvant treatment. 21897267 2011
dbSNP: rs1048290
rs1048290
Entrez Id: 9817
Gene Symbol: KEAP1
KEAP1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Keap1 single nucleotide polymorphism rs1048290 may be a novel independent prognostic marker for patients with endometrial cancer receiving adjuvant treatment. 21897267 2011