HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
Disease: Schwartz-Jampel Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1327754652
rs1327754652
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
CUI: C0036391
Disease:
Schwartz-Jampel Syndrome 		0.010 GeneticVariation BEFREE Introduction of the mutation (R3452Q) associated with the human skeletal disorder Schwartz-Jampel syndrome limited HSPG2 IV-3-induced clustering. 30203597 2018