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: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		disease 0.720 moderate 1.000 0 0 1968 2016
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 0 0 2016 2016
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0268642
Disease: Histidinuria renal tubular defect
Histidinuria renal tubular defect 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C4021733
Disease: Hyperlysinuria
Hyperlysinuria 		phenotype 0.100 None 0 0