DPYSL5, dihydropyrimidinase like 5, 56896

N. diseases: 57; N. variants: 3
Disease: Optic Disc Edema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930835
Disease: Optic Disc Edema
Optic Disc Edema 		0.020 Biomarker disease BEFREE The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. 31676123 2020
CUI: C2930835
Disease: Optic Disc Edema
Optic Disc Edema 		0.020 GeneticVariation disease BEFREE We describe a case of a 57-year-old woman with bilateral vision loss with the characteristic features of CRMP-5 PON including bilateral optic disc edema and vitreous cells. 27759576 2017