Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0036439
Disease: Scoliosis, unspecified
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: 5832
Gene Symbol: ALDH18A1
ALDH18A1
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: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0036439
Disease: Scoliosis, unspecified
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: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR

Entrez Id: 23299
Gene Symbol: BICD2
BICD2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 CausalMutation CLINVAR

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

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

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 GeneticVariation CLINVAR

Entrez Id: 9820
Gene Symbol: CUL7
CUL7
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: 1630
Gene Symbol: DCC
DCC
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456

2017
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
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 GeneticVariation CLINVAR

Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
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: 23065
Gene Symbol: EMC1
EMC1
CUI: C0036439
Disease: Scoliosis, unspecified
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: 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: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
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: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
CUI: C0036439
Disease: Scoliosis, unspecified
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: 158293
Gene Symbol: FAM120AOS
FAM120AOS
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 CausalMutation CLINVAR

Entrez Id: 2259
Gene Symbol: FGF14
FGF14
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation CLINVAR