Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral
0.010 GeneticVariation disease BEFREE Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. 31696227 2020