NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10923931
rs10923931
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE There was a statistically significant increase in the frequency of HNF1B rs4430796 G allele among pregnant women with GDM (GG+AG versus AA, OR: 1.55, 95% CI: 1.01-2.36, p = .042; G versus A, OR: 1.39, 95% CI: 1.06-1.83, p = .018), whereas there were no statistically significant differences in the distributions of TSPAN8 rs7961581 and NOTCH2 rs10923931 genotypes and alleles between women with GDM and healthy pregnant women. 28274157 2018
dbSNP: rs835576
rs835576
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0005411
Disease:
Biliary Atresia
0.010 GeneticVariation BEFREE We investigated the association of two cis-regulated variants in CD14 (rs2569190) and NOTCH2 (rs835576) with BA susceptibility, using the largest case-control cohort, totaling 506 BA patients and 1,473 healthy controls in a Southern Chinese population. 30439647 2018
dbSNP: rs835576
rs835576
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C4520983
Disease:
Congenital atresia of extrahepatic bile duct
0.010 GeneticVariation BEFREE We investigated the association of two cis-regulated variants in CD14 (rs2569190) and NOTCH2 (rs835576) with BA susceptibility, using the largest case-control cohort, totaling 506 BA patients and 1,473 healthy controls in a Southern Chinese population. 30439647 2018
dbSNP: rs699780
rs699780
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE A significant interaction between arsenic and NOTCH2 (rs699780) was observed which significantly increased the risk of T2DM (p for interaction = 0.003; q-value = 0.021). 23967108 2013
dbSNP: rs10923929
rs10923929
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2793829
rs2793829
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2493394
rs2493394
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
dbSNP: rs372562666
rs372562666
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0678222
Disease:
Breast Carcinoma
G 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs835573
rs835573
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
A 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
dbSNP: rs1557802165
rs1557802165
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
T 0.700 CausalMutation CLINVAR End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 27312922 2016
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
TG 0.700 CausalMutation CLINVAR End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 27312922 2016
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C2698259
Disease:
Monoclonal B-Cell Lymphocytosis
TG 0.700 CausalMutation CLINVAR The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. 22891273 2012
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C2698259
Disease:
Monoclonal B-Cell Lymphocytosis
TG 0.700 CausalMutation CLINVAR Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma. 22891276 2012
dbSNP: rs10923931
rs10923931
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0010068
Disease:
Coronary heart disease
0.700 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 GeneticVariation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989 2011
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
TG 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989 2011
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
TG 0.700 CausalMutation CLINVAR Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 21378985 2011
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
TG 0.700 CausalMutation CLINVAR PEST sequences and regulation by proteolysis. 8755249 1996
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1325403451
rs1325403451
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193485
rs1553193485
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0151526
Disease:
Premature Birth
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193574
rs1553193574
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1553193977
rs1553193977
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
G 0.700 CausalMutation CLINVAR