HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
Disease: Spondyloepiphyseal dysplasia, congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Development of the coronary arteries in a murine model of transposition of great arteries. 12818570 2003
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Role of collagen type II and perlecan in skeletal development. 12814946 2003
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. 12142349 2002
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. 11802174 2002
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Perlecan is essential for cartilage and cephalic development. 10545953 1999
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Perlecan maintains the integrity of cartilage and some basement membranes. 10579729 1999