Source: ALL
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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 280 0.13 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 287 0.13 1 1.4E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 305 0.13 10 1.5E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 2 247 0.13 1 1.8E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 250 0.12 10 1.6E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 245 0.12 7 1.2E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 241 0.12 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 256 0.12 5 7.7E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 229 0.12 22 3.6E-02
CUI: C0040822
Disease: Tremor
Tremor 		528 52 255 0.12 5 8.3E-03
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 246 0.12 2 3.3E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 233 0.12 11 1.8E-02
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 45 261 0.12 5 8.4E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		2872 2897 501 0.12 1 2.9E-04
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 216 0.12 27 4.5E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 222 0.12 7 1.2E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 285 0.12 10 1.5E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 301 0.12 1 1.1E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 238 0.12 4 6.8E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 217 0.12 41 6.6E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 231 0.11 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 219 0.11 24 3.9E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 216 0.11 6 1.1E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 52 228 0.11 2 3.3E-03
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		977 39 280 0.11 1 1.7E-03