Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0036439
Disease: Scoliosis, unspecified
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: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 4621
Gene Symbol: MYH3
MYH3
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 79631
Gene Symbol: EFL1
EFL1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 8139
Gene Symbol: GAN
GAN
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 29888
Gene Symbol: STRN4
STRN4
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 23065
Gene Symbol: EMC1
EMC1
CUI: C0036439
Disease: Scoliosis, unspecified
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: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR