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 Previously, a genetic ACBD5 deficiency was identified in three siblings with retinal dystrophy and white matter disease. 27799409 2017
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.030 Biomarker group BEFREE The recent identification of a mutation in the ACBD5 gene in patients with a syndromic form of retinal dystrophy highlights the physiological importance of ACBD5 in humans. 27899449 2017
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.030 Biomarker group BEFREE Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time. 23105016 2013