Source: CURATED ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		139 0 139 1.00 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		139 0 139 1.00 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		447 0 139 0.31 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		31 0 13 8.3E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		33 0 13 8.2E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		156 0 20 7.3E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		67 0 13 6.7E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		261 0 24 6.4E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		109 0 14 6.0E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		82 0 12 5.7E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		82 0 12 5.7E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		82 0 12 5.7E-02 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		85 0 12 5.7E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		93 0 12 5.5E-02 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		104 0 9 3.8E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		29 0 6 3.7E-02 0 0
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		29 0 6 3.7E-02 0 0
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		29 0 6 3.7E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		86 0 8 3.7E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		30 0 6 3.7E-02 0 0
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		101 0 8 3.4E-02 0 0
CUI: C0023012
Disease: Language Delay
Language Delay 		11 0 5 3.4E-02 0 0
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		11 0 5 3.4E-02 0 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		101 0 8 3.4E-02 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		101 0 8 3.4E-02 0 0