Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
0.700 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
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
0.700 Biomarker disease GENOMICS_ENGLAND Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
0.700 GermlineCausalMutation disease ORPHANET Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. 9800905 1998
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
0.700 GeneticVariation disease UNIPROT Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. 9800905 1998
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
0.700 Biomarker disease GENOMICS_ENGLAND
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
0.700 CausalMutation disease CLINVAR
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
0.700 Biomarker disease CTD_human