Source: BEFREE ×
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1219 153 271 0.19 2 1.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		864 217 209 0.18 4 1.8E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1018 256 230 0.18 4 1.5E-02
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 49 119 0.17 2 3.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		608 0 137 0.14 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		545 0 128 0.14 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		331 0 93 0.13 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		493 0 109 0.13 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1124 250 177 0.12 3 1.2E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		820 101 142 0.12 3 2.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		1052 0 161 0.12 0 0
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		584 47 111 0.12 2 3.6E-02
CUI: C0004936
Disease: Mental disorders
Mental disorders 		763 101 126 0.11 2 1.8E-02
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		228 54 71 0.11 3 4.9E-02
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		942 0 131 0.10 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		532 215 92 9.9E-02 3 1.4E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2217 1332 244 9.9E-02 4 3.0E-03
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1121 0 145 9.9E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		161 0 58 9.9E-02 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1368 223 164 9.7E-02 5 2.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		358 0 70 9.1E-02 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		329 0 66 8.8E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		133 0 50 8.8E-02 0 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		648 33 91 8.7E-02 2 4.9E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		334 64 63 8.3E-02 1 1.4E-02