Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0426415
Disease: Large nose
Large nose 		phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3 		alkaline ceramidase 3 0.743 0.423 0.87
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group 0.100 None 0 0