Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.410 Biomarker disease BEFREE Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) 8317498 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.410 Biomarker disease CTD_human Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) 8317498 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.410 Biomarker disease HPO