ACER3, alkaline ceramidase 3, 55331

N. diseases: 31; N. variants: 2
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540358
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 		0.600 GeneticVariation disease UNIPROT Structure of a human intramembrane ceramidase explains enzymatic dysfunction found in leukodystrophy. 30575723 2018
CUI: C4540358
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 		0.600 GeneticVariation disease UNIPROT Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. 26792856 2016
CUI: C4540358
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 		0.600 GermlineCausalMutation disease ORPHANET Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. 26792856 2016
CUI: C4540358
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 		0.600 CausalMutation disease CLINVAR