CISD2, CDGSH iron sulfur domain 2, 493856

N. diseases: 106; N. variants: 4
Disease: Optic Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker disease BEFREE The defining diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, this phenotypic subgroup has been associated with peptic ulcer disease and an increased bleeding tendency. 28335035 2017
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker disease BEFREE Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy.The disease gene for WFS2 is CISD2. 25056293 2014
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker disease HPO