Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression level of Acer3 in human HCC cell lines were examined by western blot.
|
30097213 |
2018 |
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Structure of a human intramembrane ceramidase explains enzymatic dysfunction found in leukodystrophy.
|
30575723 |
2018 |
Leukemia, Myelocytic, Acute
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our study indicates that ACER3 contributes to AML pathogenesis, and suggests that alkaline ceramidase inhibition is an option to treat AML.
|
27470583 |
2016 |
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 |
Lentivirus Infections
|
0.010 |
Biomarker
|
group |
BEFREE |
Effects of Acer3 knockdown by lentivirus infection were evaluated on cell growth and apoptosis.
|
30097213 |
2018 |
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 |
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 |
melanoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation.
|
22535842 |
2012 |
Cerebellar Ataxia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.
|
26474409 |
2015 |
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Leukodystrophy
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Neurogenic Urinary Bladder
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebral atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Low set ears
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Flexion contracture
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypoplasia of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Short stature
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Large nose
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Pallor of optic disc
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Smooth philtrum
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Developmental regression
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|