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: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.820 GeneticVariation GWASCAT Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. 18372903 2008
dbSNP: rs10923931
rs10923931
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.820 GeneticVariation GWASDB Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246 2007
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: 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: 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: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0333068
Disease:
Flexion contracture 		T 0.700 CausalMutation CLINVAR
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: 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 GeneticVariation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989 2011
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		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
dbSNP: rs1557801639
rs1557801639
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		C 0.700 CausalMutation CLINVAR
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: rs1557802353
rs1557802353
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387906746
rs387906746
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906747
rs387906747
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906748
rs387906748
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906749
rs387906749
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		A 0.700 CausalMutation CLINVAR
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: 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 		T 0.700 CausalMutation CLINVAR
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: 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