Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.030 GeneticVariation group BEFREE Mutations in C8ORF37 were previously associated with severe autosomal recessive retinal dystrophies (retinitis pigmentosa RP64 and cone-rod dystrophy CORD16) but not BBS. 27008867 2016
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.030 GeneticVariation group BEFREE In this report, we describe C8orf37 mutations that cause retinal dystrophy in two families of Pakistani origin, contributing further data on the phenotype and the spectrum of mutations in this form of retinitis pigmentosa. 25802487 2015
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.030 GeneticVariation group BEFREE Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. 22177090 2012