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: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.410 strong 1.000 0 0 2008 2014
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease 0.150 None 1.000 0 0 2012 2016
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0003864
Disease: Arthritis
Arthritis 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2001 2001
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C1704214
Disease: Lipogranuloma
Lipogranuloma 		disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C2678303
Disease: Hoarse cry
Hoarse cry 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C4024613
Disease: Progressive distal muscular atrophy
Progressive distal muscular atrophy 		disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 0