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 GeneticVariation disease BEFREE The results of the present study suggested that the compound heterozygous mutations in HSPG2 may be responsible the induction of SJS1, and demonstrated the genotype‑phenotype associations between mutations in the HSPG2 gene and clinical characteristics of SJS1. 29901129 2018
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 GeneticVariation disease BEFREE Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing. 27521129 2016
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.930 Biomarker disease MGD A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. 22449950 2012
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
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: 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: 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: 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: 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 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: 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: 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: 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