|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
|
26820064 |
2016 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
|
27760138 |
2016 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NOTCH1 cause Adams-Oliver syndrome.
|
25132448 |
2014 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
|
16729972 |
2006 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in NOTCH1 cause aortic valve disease.
|
16025100 |
2005 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NOTCH1 cause aortic valve disease.
|
16025100 |
2005 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in NOTCH1 cause aortic valve disease.
|
16025100 |
2005 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
4091 |
| Gene Symbol: |
SMAD6 |
SMAD6
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
|
22275001 |
2012 |
|
| Entrez Id: |
4091 |
| Gene Symbol: |
SMAD6 |
SMAD6
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1482 |
| Gene Symbol: |
NKX2-5 |
NKX2-5
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve.
|
25438918 |
2014 |
|
| Entrez Id: |
140628 |
| Gene Symbol: |
GATA5 |
GATA5
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve.
|
24638895 |
2014 |
|
| Entrez Id: |
5167 |
| Gene Symbol: |
ENPP1 |
ENPP1
|
0.200 |
Biomarker
|
disease |
RGD |
Inhibition of ectonucleotidase with ARL67156 prevents the development of calcific aortic valve disease in warfarin-treated rats.
|
22659116 |
2012 |
|
| Entrez Id: |
54538 |
| Gene Symbol: |
ROBO4 |
ROBO4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|