NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777734
rs587777734
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777736
rs587777736
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057518661
rs1057518661
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease:
Aortic Valve Disease 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554728034
rs1554728034
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0010606
Disease:
Adenoid Cystic Carcinoma 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554728428
rs1554728428
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554728658
rs1554728658
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0010606
Disease:
Adenoid Cystic Carcinoma 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554729118
rs1554729118
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564191302
rs1564191302
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1564199476
rs1564199476
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs41309764
rs41309764
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease:
Aortic Valve Disease 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs41309766
rs41309766
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease:
Aortic Valve Disease 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777735
rs587777735
Entrez Id: 4851;100616242
Gene Symbol: NOTCH1;MIR4673
NOTCH1;MIR4673
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61755997
rs61755997
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease:
Aortic Valve Disease 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs756434709
rs756434709
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0009782
Disease:
Connective Tissue Diseases 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs863224901
rs863224901
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease:
Aortic Valve Disease 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs864622060
rs864622060
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs869025494
rs869025494
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs6563
rs6563
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0018818
Disease:
Ventricular Septal Defects 		0.010 GeneticVariation BEFREE A case-control study in a large Chinese Han population sample of 350 children with VSD and 430 healthy controls examined the association between rs6563 SNPs and VSD. 30629480 2019
dbSNP: rs1348892740
rs1348892740
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419 2017
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419 2017
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419 2017
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419 2017
dbSNP: rs1554826746
rs1554826746
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419 2017
dbSNP: rs1387329667
rs1387329667
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0302142
Disease:
Deformity 		0.010 GeneticVariation BEFREE An unreported missense mutation (P1964L) in the cytoplasmic domain, segregating with semilunar valve malformation, was maternally inherited and a rare missense mutation (P1256L) in the extracellular domain, clinically silent in the heterozygous state, was paternally inherited. 26164125 2015
dbSNP: rs1387329667
rs1387329667
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000768
Disease:
Congenital Abnormality 		0.010 GeneticVariation BEFREE An unreported missense mutation (P1964L) in the cytoplasmic domain, segregating with semilunar valve malformation, was maternally inherited and a rare missense mutation (P1256L) in the extracellular domain, clinically silent in the heterozygous state, was paternally inherited. 26164125 2015