Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		0.120 Biomarker disease BEFREE Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6.All patients had hemivertebrae. 28054739 2017
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		0.120 Biomarker disease BEFREE Hemivertebrae are characteristic of TBX6-associated congenital scoliosis. 25564734 2015
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		0.120 Biomarker disease HPO
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		0.110 GeneticVariation disease BEFREE We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332T>C, p.M111T) in a patient with esophageal atresia and hemivertebrae. 24819706 2014
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		0.110 Biomarker disease HPO
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 Biomarker disease HPO
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		0.100 Biomarker disease HPO
Entrez Id: 4990
Gene Symbol: SIX6
SIX6 		0.100 Biomarker disease HPO
Entrez Id: 4998
Gene Symbol: ORC1
ORC1 		0.100 Biomarker disease HPO
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG 		0.100 Biomarker disease HPO
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		0.100 Biomarker disease HPO
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		0.100 Biomarker disease HPO
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22 		0.100 Biomarker disease HPO
Entrez Id: 8558
Gene Symbol: CDK10
CDK10 		0.100 Biomarker disease HPO
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker disease HPO
Entrez Id: 1855
Gene Symbol: DVL1
DVL1 		0.100 Biomarker disease HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 Biomarker disease HPO
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		0.100 Biomarker disease HPO
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		0.100 Biomarker disease HPO
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 Biomarker disease HPO
Entrez Id: 1857
Gene Symbol: DVL3
DVL3 		0.100 Biomarker disease HPO
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 Biomarker disease HPO
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.100 Biomarker disease HPO