Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina
0.010 GeneticVariation group BEFREE The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. 18394578 2008