Source: ALL

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 27 28 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 3 1 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 2 0 1992 2016
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4721814
Disease: Adenylosuccinate lyase deficiency type 2
Adenylosuccinate lyase deficiency type 2 		disease 0.300 None 1.000 3 0 2000 2003
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4721811
Disease: Adenylosuccinate lyase deficiency type 1
Adenylosuccinate lyase deficiency type 1 		disease 0.300 None 1.000 3 0 2000 2003
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4721812
Disease: Adenylosuccinate lyase deficiency type 4
Adenylosuccinate lyase deficiency type 4 		disease 0.300 None 1.000 3 0 2000 2003
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C4721813
Disease: Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 3 		disease 0.300 None 1.000 3 0 2000 2003
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease 0.200 None 1.000 1 0 1988 1988
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		phenotype 0.200 None 1.000 1 0 1985 1985
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.200 None 1.000 1 1 1985 1985
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 2 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: 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: 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: 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: 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
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: 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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0