Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral
0.010 GeneticVariation disease BEFREE We therefore screened patients with hereditary PHPV, as well as bilateral optic nerve aplasia (ONA) or hypoplasia (ONH), for mutations in ATOH7. 22645276 2012