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: 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: rs746342893
rs746342893
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
A 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs754529382
rs754529382
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
C 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs864622056
rs864622056
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
T 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs864622057
rs864622057
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs864622058
rs864622058
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
T 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs864622059
rs864622059
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
GT 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs864622060
rs864622060
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
dbSNP: rs864622061
rs864622061
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5
CA 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015