Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia
0.010 GeneticVariation disease BEFREE Linkage to 2 cartilage-specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia. 1442879 1992