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: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C4703714
Disease:
Periocular capillary hemangioma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0424731
Disease:
Single transverse palmar crease 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1827524
Disease:
Wide spaced nipples 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0009081
Disease:
Congenital clubfoot 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0520679
Disease:
Sleep Apnea, Obstructive 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0020224
Disease:
Polyhydramnios 		T 0.700 CausalMutation CLINVAR
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: C4317146
Disease:
Acid reflux 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0333068
Disease:
Flexion contracture 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1145670
Disease:
Respiratory Failure 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0549306
Disease:
Mesomelia 		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 PEST sequences and regulation by proteolysis. 8755249 1996
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2 		0.800 GeneticVariation UNIPROT NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 16773578 2006
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: rs10923931
rs10923931
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.820 GeneticVariation GWASDB 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 		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 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: 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: 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: 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: rs10923931
rs10923931
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.820 GeneticVariation GWASDB Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals. 21647700 2011
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: 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