FBLN1, fibulin 1, 2192

N. diseases: 83; N. variants: 3
Disease: Vitreoretinal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154863
Disease: Vitreoretinal dystrophy
Vitreoretinal dystrophy 		0.010 Biomarker disease BEFREE Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. 12912698 2003