COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		0.400 Biomarker disease GENOMICS_ENGLAND Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596 2012
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		0.400 Biomarker disease GENOMICS_ENGLAND Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. 18541977 2008
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		0.400 CausalMutation disease CLINVAR