HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.410 GeneticVariation group LHGDN Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. 11941538 2002
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.410 Biomarker group CTD_human Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. 11279527 2001
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.410 Biomarker group CTD_human The remaining Hspg2-/- mice died just after birth with skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities. 10545953 1999
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.410 Biomarker group HPO