rs10923931
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs835576
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs835576
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs699780
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs10923929
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
White Blood Cell Count procedure
0.700
GeneticVariation
GWASCAT
Genetic analyses of diverse populations improves discovery for complex traits.
31217584
2019
rs2793829
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Diabetes Mellitus, Non-Insulin-Dependent
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs2493394
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs372562666
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Breast Carcinoma
G
0.700
GeneticVariation
GWASCAT
Association analysis identifies 65 new breast cancer risk loci.
29059683
2017
rs835573
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Lupus Erythematosus, Systemic
A
0.700
GeneticVariation
GWASCAT
Transancestral mapping and genetic load in systemic lupus erythematosus.
28714469
2017
rs1557802165
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
T
0.700
CausalMutation
CLINVAR
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
27312922
2016
rs771237928
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
TG
0.700
CausalMutation
CLINVAR
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
27312922
2016
rs771237928
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs771237928
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Monoclonal B-Cell Lymphocytosis
TG
0.700
CausalMutation
CLINVAR
Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.
22891276
2012
rs10923931
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs1553193507
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs771237928
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs771237928
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
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
rs771237928
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
TG
0.700
CausalMutation
CLINVAR
PEST sequences and regulation by proteolysis.
8755249
1996
rs111033632
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Alagille Syndrome
T
0.700
CausalMutation
CLINVAR
rs1325403451
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
A
0.700
CausalMutation
CLINVAR
rs1553193485
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
A
0.700
CausalMutation
CLINVAR
rs1553193507
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
A
0.700
CausalMutation
CLINVAR
rs1553193507
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Premature Birth
A
0.700
CausalMutation
CLINVAR
rs1553193574
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
C
0.700
CausalMutation
CLINVAR
rs1553193977
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
Hajdu-Cheney Syndrome
G
0.700
CausalMutation
CLINVAR