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: C4317146
Disease:
Acid reflux
T 0.700 CausalMutation CLINVAR
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
T 0.700 CausalMutation 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: 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
dbSNP: rs312262800
rs312262800
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs312262801
rs312262801
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
A 0.700 CausalMutation CLINVAR
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: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs1557804111
rs1557804111
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs312262798
rs312262798
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
T 0.700 CausalMutation CLINVAR
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: 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: 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: 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: C0265783
Disease:
Congenital hypoplasia of lung
T 0.700 CausalMutation CLINVAR
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: 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
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
0.820 GeneticVariation GWASDB Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. 23300278 2013
dbSNP: rs10923931
rs10923931
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
T 0.820 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
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: 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