ACER3, alkaline ceramidase 3, 55331

N. diseases: 31; N. variants: 2
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 GeneticVariation disease BEFREE Homozygosity for the p.E33G mutation in the ACER3 gene results in inactivation of ACER3, leading to the accumulation of various sphingolipids in blood and probably in brain, likely accounting for this new form of childhood leukodystrophy. 26792856 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 Biomarker disease HPO