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 		0.820 GeneticVariation BEFREE To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we genotyped 1279 Japanese subjects (556 men and 723 women), who underwent computed tomography for measurements of visceral fat area (VFA) and subcutaneous fat area (SFA) for the following single-nucleotide polymorphisms (SNPs): NOTCH2 rs10923931, THADA rs7578597, PPARG rs1801282, ADAMTS9 rs4607103, IGF2BP2 rs1470579, VEGFA rs9472138, JAZF1 rs864745, CDKN2A/CDKN2B rs564398 and rs10811661, HHEX rs1111875 and rs5015480, TCF7L2 rs7901695, KCNQ1 rs2237892, KCNJ11 rs5215 and rs5219, EXT2 rs1113132, rs11037909, and rs3740878, MTNR1B rs10830963, DCD rs1153188, TSPAN8/LGR5 rs7961581, and FTO rs8050136 and rs9939609. 22377712 2012
dbSNP: rs10923931
rs10923931
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.820 GeneticVariation BEFREE We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-associated variants in the JAZF1 (rs864745), CDC123/CAMK1D (rs12779790), TSPAN8 (rs7961581), THADA (rs7578597), ADAMTS9 (rs4607103), and NOTCH2 (rs10923931) loci, which were recently identified by meta-analysis of genome-wide association data. 18567820 2008
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: 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: 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: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2 		T 0.800 CausalMutation CLINVAR
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 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: 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
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: rs1557804111
rs1557804111
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs312262793
rs312262793
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs312262794
rs312262794
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs312262795
rs312262795
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs312262798
rs312262798
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs312262798
rs312262798
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs312262799
rs312262799
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome 		G 0.700 CausalMutation CLINVAR