rs587777734
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
rs587777736
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
rs587777736
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
rs587781259
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
rs587781259
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
rs587777734
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777736
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1348892740
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1554728529
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1554728529
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1554728529
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Multiple congenital anomalies
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1554826746
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs3124596
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs1057523819
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1448345366
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
A |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1554727954
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1554728424
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
T |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1554729113
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
A |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1554729443
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
G |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1554730184
|
NOTCH1;MIR4673
|
ADAMS-OLIVER SYNDROME 5
|
GG |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1554730670
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
A |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs587778569
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
A |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs771590616
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
ADAMS-OLIVER SYNDROME 5
|
T |
0.700 |
CausalMutation |
CLINVAR |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
|
29924900 |
2018 |
rs1348892740
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
|
28160419 |
2017 |
rs1554728529
|
Entrez Id: |
4851 |
Gene Symbol: |
NOTCH1 |
NOTCH1
|
Muscle hypotonia
|
C |
0.700 |
CausalMutation |
CLINVAR |
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
|
28160419 |
2017 |