Source: INFERRED

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: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		disease 0.790 strong 1.000 19 14 1992 2017
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.430 None 1.000 0 0 1989 2004
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.410 strong 1.000 0 0 1992 2016
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 1999 2019
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0425782
Disease: Breast size
Breast size 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		phenotype 0.100 None 0 2
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 2
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease 0.100 None 0 2
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
Hypointensity of cerebral white matter on MRI 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0