Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154823
Disease: Retinal defect
Retinal defect
0.010 Biomarker phenotype BEFREE Although the GpnmbR150X mutation leads to increased IOP and glaucoma in DBA/2J mice, development of anterior segment and retinal defects in D2.Ppcd1 animals does not depend upon presence of the GpnmbR150X mutation. 28981549 2017