HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
Disease: Dyssegmental dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 GeneticVariation disease BEFREE Dyssegmental dysplasia Silverman-Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. 29526034 2018
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease MGD Development of the coronary arteries in a murine model of transposition of great arteries. 12818570 2003
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease MGD Role of collagen type II and perlecan in skeletal development. 12814946 2003
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease MGD Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. 11802174 2002
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease BEFREE These findings suggest that perlecan has an important role in neuromuscular function and cartilage formation, and they define the molecular basis involved in the difference in the phenotypic severity between DDSH and SJS. 11941538 2002
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease MGD Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. 12142349 2002
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 GermlineCausalMutation disease ORPHANET Mice lacking the perlecan gene (Hspg2) have a severe chondrodysplasia with dyssegmental ossification of the spine and show radiographic, clinical and chondro-osseous morphology similar to a lethal autosomal recessive disorder in humans termed dyssegmental dysplasia, Silverman-Handmaker type (DDSH; MIM 224410). 11279527 2001
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease GENOMICS_ENGLAND Mice lacking the perlecan gene (Hspg2) have a severe chondrodysplasia with dyssegmental ossification of the spine and show radiographic, clinical and chondro-osseous morphology similar to a lethal autosomal recessive disorder in humans termed dyssegmental dysplasia, Silverman-Handmaker type (DDSH; MIM 224410). 11279527 2001
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 GeneticVariation disease BEFREE Mice lacking the perlecan gene (Hspg2) have a severe chondrodysplasia with dyssegmental ossification of the spine and show radiographic, clinical and chondro-osseous morphology similar to a lethal autosomal recessive disorder in humans termed dyssegmental dysplasia, Silverman-Handmaker type (DDSH; MIM 224410). 11279527 2001
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease CTD_human Mice lacking the perlecan gene (Hspg2) have a severe chondrodysplasia with dyssegmental ossification of the spine and show radiographic, clinical and chondro-osseous morphology similar to a lethal autosomal recessive disorder in humans termed dyssegmental dysplasia, Silverman-Handmaker type (DDSH; MIM 224410). 11279527 2001
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease MGD Perlecan is essential for cartilage and cephalic development. 10545953 1999
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease MGD Perlecan maintains the integrity of cartilage and some basement membranes. 10579729 1999
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease GENOMICS_ENGLAND
CUI: C1857100
Disease: Dyssegmental dysplasia
Dyssegmental dysplasia 		0.830 Biomarker disease GENOMICS_ENGLAND