Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Familial Exudative Vitreoretinopathy
0.310 GeneticVariation disease BEFREE To the best of our knowledge, the ABCA4 c.5693G>A (p.R1898H) mutation has not been reported in FEVR, and the LRP5 c.260T>G (p.I87S) mutation is a novel mutation. 29207047 2018
Familial Exudative Vitreoretinopathy
0.310 Biomarker disease CTD_human To the best of our knowledge, the ABCA4 c.5693G>A (p.R1898H) mutation has not been reported in FEVR, and the LRP5 c.260T>G (p.I87S) mutation is a novel mutation. 29207047 2018