Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.010 GeneticVariation group BEFREE Previously, a genetic ACBD5 deficiency was identified in three siblings with retinal dystrophy and white matter disease. 27799409 2017
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		0.010 Biomarker group BEFREE Our study reclassifies ACBD5-related phenotype as a novel peroxisomal disorder. 27899449 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Stable NIH3T3 transfectants with ACBD5-RET cDNA induced tumor formation after their injection into nude mice. 25175022 2014
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 Biomarker disease BEFREE These findings suggest that the ACBD5-RET rearrangement is causatively involved in the development of PTC. 25175022 2014