Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3207
Gene Symbol: HOXA11
HOXA11
0.200 Biomarker disease RGD Abnormalities of vertebral formation and Hox expression in congenital kyphoscoliotic rats. 18327665 2008
Entrez Id: 3237
Gene Symbol: HOXD11
HOXD11
0.200 Biomarker disease RGD Abnormalities of vertebral formation and Hox expression in congenital kyphoscoliotic rats. 18327665 2008
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10
0.200 Biomarker disease RGD Abnormalities of vertebral formation and Hox expression in congenital kyphoscoliotic rats. 18327665 2008
Entrez Id: 3226
Gene Symbol: HOXC10
HOXC10
0.200 Biomarker disease RGD Abnormalities of vertebral formation and Hox expression in congenital kyphoscoliotic rats. 18327665 2008
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.120 GeneticVariation disease BEFREE To our knowledge, this is the first report of a family with an FBN1 gene mutation cosegregating with an unusual autosomal dominant progressive kyphoscoliosis of variable severity, together with radiological abnormalities of the spine, and some skeletal but no ocular or cardiac manifestations of Marfan syndrome. 11992479 2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.120 GeneticVariation disease BEFREE Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the "MASS" phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373-2378], familial arachnodactyly, Shprintzen-Goldberg syndrome [Hayward et al., 1994: Mol Cell Probes 8:325-327; Furthmayr and Francke, 1997: Semin Thorac Cardiovasc Surg 9:191-205], and severe progressive kyphoscoliosis [Adès et al., 2002: Am J Med Genet 109:261-270]. 15054843 2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.120 Biomarker disease HPO
Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14
0.110 GeneticVariation disease BEFREE Biallelic mutations in FKBP14 cause a recessive form of Ehlers-Danlos syndrome (EDS) characterized by progressive kyphoscoliosis, myopathy, and hearing loss. 24677762 2014
Entrez Id: 246329
Gene Symbol: STAC3
STAC3
0.110 Biomarker disease HPO
Entrez Id: 246329
Gene Symbol: STAC3
STAC3
0.110 GeneticVariation disease BEFREE Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491 2017
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
0.110 Biomarker disease HPO
Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14
0.110 Biomarker disease HPO
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
0.110 Biomarker disease BEFREE We retrospectively reviewed a case of proximal junctional kyphosis after posterior spinal fusion for severe kyphoscoliosis in PIEZO2-deficient arthrogryposis. 31770315 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 Biomarker disease HPO
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.100 Biomarker disease HPO
Entrez Id: 4841
Gene Symbol: NONO
NONO
0.100 Biomarker disease HPO
Entrez Id: 8838
Gene Symbol: CCN6
CCN6
0.100 Biomarker disease HPO
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.100 Biomarker disease HPO
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
0.100 Biomarker disease HPO
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
0.100 Biomarker disease HPO
Entrez Id: 9382
Gene Symbol: COG1
COG1
0.100 Biomarker disease HPO
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
0.100 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.100 Biomarker disease HPO
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.100 Biomarker disease HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker disease HPO