|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.130 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4617 |
| Gene Symbol: |
MYF5 |
MYF5
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
|
16372351 |
2006 |
|
| Entrez Id: |
57038 |
| Gene Symbol: |
RARS2 |
RARS2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
79147 |
| Gene Symbol: |
FKRP |
FKRP
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4361 |
| Gene Symbol: |
MRE11 |
MRE11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
| Entrez Id: |
547 |
| Gene Symbol: |
KIF1A |
KIF1A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
|
16969868 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
|
| Entrez Id: |
6531 |
| Gene Symbol: |
SLC6A3 |
SLC6A3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
|
22279524 |
2012 |
|
| Entrez Id: |
5728 |
| Gene Symbol: |
PTEN |
PTEN
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6598 |
| Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2737 |
| Gene Symbol: |
GLI3 |
GLI3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
54499 |
| Gene Symbol: |
TMCO1 |
TMCO1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
| Entrez Id: |
79641 |
| Gene Symbol: |
ROGDI |
ROGDI
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4621 |
| Gene Symbol: |
MYH3 |
MYH3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
9427 |
| Gene Symbol: |
ECEL1 |
ECEL1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
54551 |
| Gene Symbol: |
MAGEL2 |
MAGEL2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|