DDX58, DExD/H-box helicase 58, 23586

N. diseases: 144; N. variants: 10
Disease: Glaucoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 GeneticVariation disease BEFREE Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.803G>T [p.Cys268Phe]) in a family who harbored neither dental anomalies nor aortic calcification but who suffered from glaucoma and skeletal abnormalities. 25620203 2015
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 Biomarker disease HPO