Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 1301
Gene Symbol: COL11A1
COL11A1 		0.300 Biomarker disease CTD_human Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity. 19638309 2009
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: 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: 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: 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: 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: 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: 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: 3339
Gene Symbol: HSPG2
HSPG2 		0.300 Biomarker disease CTD_human Perlecan is essential for cartilage and cephalic development. 10545953 1999
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: 50964
Gene Symbol: SOST
SOST 		0.300 Biomarker disease CTD_human
Entrez Id: 6811
Gene Symbol: STX5
STX5 		0.010 GeneticVariation disease BEFREE Here, we show that C2 binds to the SNARE protein Syntaxin 5 and this interaction is weakened by an SEDT-causing missense mutation (D47Y). 23898804 2013
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE Deletions or point mutations in the SEDL gene are responsible for the genetic disease spondyloepiphyseal dysplasia tarda (SEDT), an X-linked skeletal disorder. 12361953 2002
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda. 19002213 2009
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 19766614 2009
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization. 23898804 2013
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease BEFREE Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. 11252002 2001
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 GeneticVariation disease UNIPROT A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 11424925 2001
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.800 Biomarker disease BEFREE Characterization of the human sedlin cDNA and determination of the sedlin gene structure enable functional studies of sedlin and elucidation of the pathogenesis of SEDT. 11595175 2001