Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
0.010 Biomarker disease BEFREE Patients with MPS VII exhibit progressive skeletal deformity including kyphoscoliosis and joint dysplasia, which decrease quality of life and increase mortality. 31442675 2019
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
0.010 Biomarker disease BEFREE Three-Dimensional-Printed Individualized Guiding Templates for Surgical Correction of Severe Kyphoscoliosis Secondary to Ankylosing Spondylitis: Outcomes of 9 Cases. 31302275 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.010 GeneticVariation disease BEFREE A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report. 31305444 2019
Entrez Id: 140821
Gene Symbol: RSS
RSS
0.010 Biomarker disease BEFREE A total of 134 adolescent (mean age 17.1 years) completed SRS-22r questionnaire: 38 patients with CK from 80° to 110° (group 1), 24 patients with CK > 110° (group 2), 27 patients with CKS (group 3), and 45 healthy controls (group 4). 29462064 2018
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
0.010 GeneticVariation disease BEFREE As the two patients reported here illustrate, patients with kEDS-PLOD1 do not always have a kyphoscoliosis present at birth or in the first year of life, neither do they necessarily develop kyphoscoliosis later in infancy. 28757364 2017
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
0.010 Biomarker disease BEFREE They are conserved in mice and humans, whereby mutation/deficiency of human <i>PAX1/PAX9</i> has been associated with kyphoscoliosis. 28011632 2017
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.010 GeneticVariation disease BEFREE A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. 21611149 2011
Entrez Id: 10631
Gene Symbol: POSTN
POSTN
0.010 Biomarker disease BEFREE On chromosome 13, single-point and multipoint analyses resulted in multiple SNPs having P values < 0.05 within five candidate genes: Osteoblast-specific factor 2 or periostin, forkhead box O1A, A-kinase anchor protein 11, TBC1 domain family member 4, and glypican 5, thus supporting the potential relevance of this region in the pathogenesis of kyphoscoliosis. 16596674 2006
Entrez Id: 2262
Gene Symbol: GPC5
GPC5
0.010 Biomarker disease BEFREE On chromosome 13, single-point and multipoint analyses resulted in multiple SNPs having P values < 0.05 within five candidate genes: Osteoblast-specific factor 2 or periostin, forkhead box O1A, A-kinase anchor protein 11, TBC1 domain family member 4, and glypican 5, thus supporting the potential relevance of this region in the pathogenesis of kyphoscoliosis. 16596674 2006
Entrez Id: 8139
Gene Symbol: GAN
GAN
0.010 Biomarker disease BEFREE The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging. 12398836 2002
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
0.020 Biomarker disease BEFREE The clinical findings of EDS kyphoscoliotic type (EDS type VIA and B) comprise kyphoscoliosis, muscular hypotonia, hyperextensible, thin and bruisable skin, atrophic scarring, joint hypermobility and variable ocular involvement. 20842734 2010
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
0.020 Biomarker disease BEFREE We conclude that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and present evidence that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider EDS VIA earlier than heretofore. 15666309 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 Biomarker disease HPO
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
0.100 Biomarker disease HPO
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
0.100 Biomarker disease HPO
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
0.100 Biomarker disease HPO
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
0.100 Biomarker disease HPO
Entrez Id: 84896
Gene Symbol: ATAD1
ATAD1
0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 Biomarker disease HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 Biomarker disease HPO
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
0.100 Biomarker disease HPO
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
0.100 Biomarker disease HPO
Entrez Id: 3008
Gene Symbol: H1-4
H1-4
0.100 Biomarker disease HPO
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
0.100 Biomarker disease HPO
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
0.100 Biomarker disease HPO