|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
Scoliosis, unspecified
|
0.130 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
Scoliosis, unspecified
|
0.120 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
Scoliosis, unspecified
|
0.110 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
Scoliosis, unspecified
|
0.110 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Scoliosis, unspecified
|
0.110 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
Scoliosis, unspecified
|
0.110 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
Scoliosis, unspecified
|
0.110 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4617 |
| Gene Symbol: |
MYF5 |
MYF5
|
Scoliosis, unspecified
|
0.110 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
9820 |
| Gene Symbol: |
CUL7 |
CUL7
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| 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: |
59341 |
| Gene Symbol: |
TRPV4 |
TRPV4
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
|
20037588 |
2010 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
| Entrez Id: |
23065 |
| Gene Symbol: |
EMC1 |
EMC1
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
|
26942288 |
2016 |
|
| 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: |
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: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
547 |
| Gene Symbol: |
KIF1A |
KIF1A
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
|
| Entrez Id: |
59341 |
| Gene Symbol: |
TRPV4 |
TRPV4
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
|
22702953 |
2012 |
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
Scoliosis, unspecified
|
0.100 |
CausalMutation |
CLINVAR |
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
|
16969868 |
2006 |
|
FAM120AOS
|
Scoliosis, unspecified
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|