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 CausalMutation disease CLINVAR
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
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO