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
0.800 GeneticVariation UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
dbSNP: rs587777736
rs587777736
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
G 0.800 GeneticVariation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
dbSNP: rs587777736
rs587777736
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
0.800 GeneticVariation UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
dbSNP: rs587781259
rs587781259
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
T 0.800 CausalMutation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
dbSNP: rs587781259
rs587781259
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
0.800 GeneticVariation UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
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: rs1348892740
rs1348892740
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease:
Multiple congenital anomalies
A 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885 2019
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885 2019
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885 2019
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease:
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885 2019
dbSNP: rs1554826746
rs1554826746
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease:
Multiple congenital anomalies
A 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885 2019
dbSNP: rs3124596
rs3124596
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1057523819
rs1057523819
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
T 0.700 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1448345366
rs1448345366
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1554727954
rs1554727954
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
T 0.700 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1554728424
rs1554728424
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
T 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1554729113
rs1554729113
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1554729443
rs1554729443
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
G 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1554730184
rs1554730184
Entrez Id: 4851;100616242
Gene Symbol: NOTCH1;MIR4673
NOTCH1;MIR4673
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
GG 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs1554730670
rs1554730670
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs587778569
rs587778569
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
A 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
dbSNP: rs771590616
rs771590616
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
T 0.700 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
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