COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Fibrochondrogenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265282
Disease: Fibrochondrogenesis
Fibrochondrogenesis 		0.510 GeneticVariation disease BEFREE These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2. 22246659 2012
CUI: C0265282
Disease: Fibrochondrogenesis
Fibrochondrogenesis 		0.510 GermlineCausalMutation disease ORPHANET These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2. 22246659 2012
CUI: C0265282
Disease: Fibrochondrogenesis
Fibrochondrogenesis 		0.510 Biomarker disease CTD_human