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: 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: rs835573
rs835573
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		A 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
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: C0265783
Disease:
Congenital hypoplasia of lung 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0920299
Disease:
Overriding toe 		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 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: 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: 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: 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: 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
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: 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
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: rs387906749
rs387906749
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