Disease: Disorder of macula of retina ×
Source: ALL
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 		0.020 GeneticVariation group BEFREE Here, we functionally characterized two novel MFSD8 variants found in a child with juvenile isolated maculopathy, in order to establish a refined prognosis. 31721179 2020
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		0.020 GeneticVariation group BEFREE This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. 28586915 2017