HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
Disease: Myotonic Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		0.210 Biomarker group 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
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		0.210 Biomarker group MGD Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. 18647752 2008
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		0.210 Biomarker group MGD Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. 17213231 2007
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		0.210 GeneticVariation group LHGDN Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. 11941538 2002
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		0.210 Biomarker group MGD Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. 11802174 2002
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		0.210 Biomarker group MGD Perlecan is essential for cartilage and cephalic development. 10545953 1999