ACER3, alkaline ceramidase 3, 55331

N. diseases: 31; N. variants: 2
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
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
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
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.100 Biomarker phenotype HPO
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		0.100 Biomarker phenotype HPO
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.100 Biomarker disease HPO