Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.310 Biomarker group BEFREE In Vitro Effect of Apigenin and Danshen in Tibial Dyschondroplasia Through Inhibition of Heat-Shock Protein 90 and Vascular Endothelial Growth Factor Expressions in Avian Growth Plate Cells. 28957003 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.310 Therapeutic group CTD_human Expression and identification of recombinant chicken vascular endothelial growth factor in Pichia pastoris and its role in the pathogenesis of tibial dyschondroplasia. 24235232 2013
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
0.300 Biomarker group CTD_human Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report. 30200136 2018
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.300 SomaticCausalMutation group ORPHANET Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 22057234 2011
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.300 SomaticCausalMutation group ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.300 SomaticCausalMutation group ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.300 SomaticCausalMutation group ORPHANET Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 22057234 2011
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
0.300 Biomarker group CTD_human Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity. 19638309 2009
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.300 Biomarker group CTD_human Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396 2008
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
0.300 GermlineCausalMutation group ORPHANET PTHR1 mutations associated with Ollier disease result in receptor loss of function. 18559376 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
0.300 Biomarker group CTD_human ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 18677313 2008
Entrez Id: 2321
Gene Symbol: FLT1
FLT1
0.300 Biomarker group CTD_human Thiram-induced changes in the expression of genes relating to vascularization and tibial dyschondroplasia. 17954590 2007
Entrez Id: 3791
Gene Symbol: KDR
KDR
0.300 Biomarker group CTD_human Thiram-induced changes in the expression of genes relating to vascularization and tibial dyschondroplasia. 17954590 2007
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.300 Biomarker group CTD_human Thiram-induced changes in the expression of genes relating to vascularization and tibial dyschondroplasia. 17954590 2007
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
0.300 Biomarker group CTD_human A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 16909383 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.300 Biomarker group CTD_human Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
0.300 GermlineCausalMutation group ORPHANET A mutant PTH/PTHrP type I receptor in enchondromatosis. 11850620 2002
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
0.300 Biomarker group CTD_human A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.300 Biomarker group CTD_human Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. 11279527 2001
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
0.300 Biomarker group CTD_human Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. 11146471 2000
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.300 Biomarker group CTD_human Perlecan is essential for cartilage and cephalic development. 10545953 1999
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.300 Biomarker group CTD_human A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 8486375 1993
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
0.300 Biomarker group CTD_human Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. 817853 1976
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2
0.300 Biomarker group CTD_human
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.300 Biomarker group CTD_human