×
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: 89953
Gene Symbol: KLC4
KLC4
Scoliosis, unspecified
0.100
GeneticVariation
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518 2019
×
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Scoliosis, unspecified
0.100
CausalMutation
CLINVAR
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
29079548 2018
×
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
Scoliosis, unspecified
0.100
GeneticVariation
CLINVAR
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
27657687 2017
×
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
Scoliosis, unspecified
0.100
GeneticVariation
CLINVAR
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
27657687 2017
×
Entrez Id: 1630
Gene Symbol: DCC
DCC
Scoliosis, unspecified
0.100
CausalMutation
CLINVAR
Biallelic mutations in human DCC cause developmental split-brain syndrome.
28250456 2017
×
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: 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: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
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: 6911
Gene Symbol: TBX6
TBX6
Scoliosis, unspecified
0.100
GeneticVariation
CLINVAR
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
25564734 2015
×
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Scoliosis, unspecified
0.100
GeneticVariation
CLINVAR
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
24789864 2014
×
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: 6531
Gene Symbol: SLC6A3
SLC6A3
Scoliosis, unspecified
0.100
CausalMutation
CLINVAR
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
22279524 2012
×
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: 59341
Gene Symbol: TRPV4
TRPV4
Scoliosis, unspecified
0.100
GeneticVariation
CLINVAR
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
20037586 2010
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Scoliosis, unspecified
0.100
CausalMutation
CLINVAR
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
19206176 2009
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Scoliosis, unspecified
0.100
CausalMutation
CLINVAR
Severe neonatal manifestations of Costello syndrome.
18039947 2008
×
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