COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Megaepiphyseal dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855310
Disease: Megaepiphyseal dwarfism
Megaepiphyseal dwarfism 		0.300 Biomarker disease CTD_human A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 16189708 2005