|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
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: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
|
16969868 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
| Entrez Id: |
215 |
| Gene Symbol: |
ABCD1 |
ABCD1
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
|
9452087 |
1998 |
|
| Entrez Id: |
57038 |
| Gene Symbol: |
RARS2 |
RARS2
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
79147 |
| Gene Symbol: |
FKRP |
FKRP
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4361 |
| Gene Symbol: |
MRE11 |
MRE11
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
775 |
| Gene Symbol: |
CACNA1C |
CACNA1C
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
FAM120AOS
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5728 |
| Gene Symbol: |
PTEN |
PTEN
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
56052 |
| Gene Symbol: |
ALG1 |
ALG1
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6598 |
| Gene Symbol: |
SMARCB1 |
SMARCB1
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2737 |
| Gene Symbol: |
GLI3 |
GLI3
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
54499 |
| Gene Symbol: |
TMCO1 |
TMCO1
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
79641 |
| Gene Symbol: |
ROGDI |
ROGDI
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4621 |
| Gene Symbol: |
MYH3 |
MYH3
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
79631 |
| Gene Symbol: |
EFL1 |
EFL1
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|