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 0.31 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		139 0 139 0.31 0 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		139 0 139 0.31 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 104 0.22 2 3.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		218 417 81 0.14 2 4.8E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		67 0 36 7.5E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		261 0 45 6.8E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		109 0 32 6.1E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		93 0 31 6.1E-02 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		883 0 52 4.1E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		156 0 23 4.0E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		18 0 17 3.8E-02 0 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		82 0 19 3.7E-02 0 0
CUI: C0236018
Disease: Aura
Aura 		82 0 19 3.7E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		82 0 19 3.7E-02 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		85 0 19 3.7E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		86 0 19 3.7E-02 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		37 31 17 3.6E-02 3 8.8E-02
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		31 0 15 3.2E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		702 0 36 3.2E-02 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		33 0 15 3.2E-02 0 0
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		477 0 28 3.1E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		15 0 14 3.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 14 3.1E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1074 0 37 2.5E-02 0 0