Variant Gene Disease 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
0.800 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
0.800 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
0.800 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
0.800 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
0.800 GeneticVariation GWASDB Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246 2007
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
0.800 CausalMutation CLINVAR 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
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
0.800 CausalMutation CLINVAR Alagille Syndrome 20301450 1993
dbSNP: rs3879977
rs3879977
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0678222
Disease:
Breast Carcinoma
0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2018
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 27312922 2017
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C2698259
Disease:
Monoclonal B-Cell Lymphocytosis
0.700 CausalMutation CLINVAR Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing. 27148583 2016
dbSNP: rs387906748
rs387906748
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. 21712856 2012
dbSNP: rs387906749
rs387906749
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. 21712856 2012
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C2698259
Disease:
Monoclonal B-Cell Lymphocytosis
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
0.700 CausalMutation CLINVAR Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma. 22891276 2012
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: rs387906746
rs387906746
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 21378985 2011
dbSNP: rs387906747
rs387906747
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
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
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
0.700 CausalMutation CLINVAR Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 21378985 2011
dbSNP: rs387906749
rs387906749
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. 17159511 2007
dbSNP: rs312262798
rs312262798
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
0.700 CausalMutation CLINVAR NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 16773578 2006
dbSNP: rs387906748
rs387906748
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 8723560 1996
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR PEST sequences and regulation by proteolysis. 8755249 1996