|
| Entrez Id: |
84294 |
| Gene Symbol: |
UTP23 |
UTP23
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| Entrez Id: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
|
21387466 |
2011 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
|
19953625 |
2010 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
|
20683980 |
2010 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
|
| Entrez Id: |
285175 |
| Gene Symbol: |
UNC80 |
UNC80
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
9091 |
| Gene Symbol: |
PIGQ |
PIGQ
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55252 |
| Gene Symbol: |
ASXL2 |
ASXL2
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
22827 |
| Gene Symbol: |
PUF60 |
PUF60
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
29123 |
| Gene Symbol: |
ANKRD11 |
ANKRD11
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
122622 |
| Gene Symbol: |
ADSS1 |
ADSS1
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1144 |
| Gene Symbol: |
CHRND |
CHRND
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
23389 |
| Gene Symbol: |
MED13L |
MED13L
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3845 |
| Gene Symbol: |
KRAS |
KRAS
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
93627 |
| Gene Symbol: |
TBCK |
TBCK
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4358 |
| Gene Symbol: |
MPV17 |
MPV17
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
8831 |
| Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
51091 |
| Gene Symbol: |
SEPSECS |
SEPSECS
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
Blepharoptosis
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3508 |
| Gene Symbol: |
IGHMBP2 |
IGHMBP2
|
Blepharoptosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|