COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Disease: Macular dystrophy, corneal type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		0.010 GeneticVariation disease BEFREE In a second of these patients, the diagnosis of Schmid type MCD (OMIM # 156500) was made and confirmed by the detection of a mutation in the COL10A1 gene. 16838329 2006