Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE The mutation was not detected in the two young sons of the consultand (believed to be a carrier because of her subtle radiographic skeletal changes and then shown to have the deletion), but they were too young for x-ray diagnosis Identification of a defect in sedlin in this SEDT kindred enables carrier detection and presymptomatic diagnosis and reveals an important role for this gene in postnatal endochondral bone formation. 10999831 2000
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease UNIPROT Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. 10431248 1999
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 Biomarker disease CTD_human
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.310 GeneticVariation disease BEFREE A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. 8019561 1994
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.310 Biomarker disease CTD_human A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. 8486375 1993
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		0.300 Biomarker disease CTD_human Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report. 30200136 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		0.300 Therapeutic disease 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: 1301
Gene Symbol: COL11A1
COL11A1 		0.300 Biomarker disease CTD_human Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity. 19638309 2009
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.300 Biomarker disease CTD_human Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396 2008
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		0.300 Biomarker disease CTD_human ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 18677313 2008
Entrez Id: 596
Gene Symbol: BCL2
BCL2 		0.300 Biomarker disease 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 disease CTD_human Thiram-induced changes in the expression of genes relating to vascularization and tibial dyschondroplasia. 17954590 2007
Entrez Id: 2321
Gene Symbol: FLT1
FLT1 		0.300 Biomarker disease 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 disease 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 disease CTD_human Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.300 Biomarker disease CTD_human Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. 11279527 2001
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		0.300 Biomarker disease CTD_human A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		0.300 Biomarker disease 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 disease CTD_human Perlecan is essential for cartilage and cephalic development. 10545953 1999
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		0.300 Biomarker disease CTD_human Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. 817853 1976
Entrez Id: 50964
Gene Symbol: SOST
SOST 		0.300 Biomarker disease CTD_human
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). 30647738 2018
Entrez Id: 10597
Gene Symbol: TRAPPC2B
TRAPPC2B 		0.100 GeneticVariation disease BEFREE The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree. 24841781 2014