Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 GeneticVariation disease CLINVAR
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 CausalMutation disease CLINVAR
Entrez Id: 50964
Gene Symbol: SOST
SOST 		0.300 Biomarker disease CTD_human
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		0.300 Biomarker disease CTD_human
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: 1280
Gene Symbol: COL2A1
COL2A1 		0.300 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: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease CTD_human Perlecan is essential for cartilage and cephalic development. 10545953 1999
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease MGD Perlecan is essential for cartilage and cephalic development. 10545953 1999
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 GeneticVariation disease UNIPROT Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families. 11101850 2000
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 GeneticVariation disease BEFREE Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families. 11101850 2000
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease GENOMICS_ENGLAND Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families. 11101850 2000
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 		0.930 Biomarker disease GENOMICS_ENGLAND Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. 11279527 2001
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 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: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease MGD Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. 11802174 2002
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: 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: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease MGD Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. 17213231 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: 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: 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: 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: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease MGD Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. 18647752 2008