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 153 492 0.40 62 0.41
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		545 0 126 0.14 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		608 51 133 0.14 1 8.9E-03
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		128 13 75 0.14 3 4.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		864 217 160 0.13 5 1.8E-02
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		485 0 109 0.13 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		161 14 68 0.12 2 2.7E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1018 256 156 0.12 3 9.5E-03
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 49 83 0.11 2 1.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		1052 139 154 0.11 6 3.1E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		331 0 82 0.11 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1091 73 155 0.11 2 1.5E-02
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		424 28 88 0.11 1 1.1E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1124 250 151 0.10 8 2.6E-02
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		584 47 97 9.9E-02 1 9.3E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		820 101 113 9.4E-02 2 1.2E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1368 223 160 9.4E-02 2 7.1E-03
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		942 39 113 8.5E-02 1 1.0E-02
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		193 0 53 8.4E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		358 0 64 8.1E-02 0 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1121 100 116 7.7E-02 3 1.9E-02
CUI: C0004936
Disease: Mental disorders
Mental disorders 		763 101 90 7.7E-02 2 1.2E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 276 112 7.7E-02 1 3.0E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		377 64 60 7.4E-02 1 8.0E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		140 6 43 7.3E-02 1 1.5E-02