COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Disease: Chondrodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.020 GeneticVariation disease BEFREE We used the PCR and the SSCP techniques to analyze the coding and upstream promoter regions of the COL10A1 gene in a number of individuals with forms of chondrodysplasia. 8304336 1994
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.020 GeneticVariation disease BEFREE The distribution and pattern of expression of the type X collagen gene (COL10A1) suggests that mutations altering the structure and synthesis of the protein may be responsible for causing heritable forms of chondrodysplasia. 1329505 1992