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: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 141 0.13 16 6.6E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 166 0.13 3 1.4E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 190 0.13 4 8.0E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 143 0.13 8 3.6E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 152 0.13 10 5.3E-02
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 166 0.13 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 52 165 0.13 1 4.7E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 164 0.12 7 2.9E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 154 0.12 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 143 0.12 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 136 0.12 1 5.6E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 185 0.12 3 1.1E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 30 156 0.12 1 5.2E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 138 0.12 1 2.4E-03
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 117 0.12 5 2.8E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 120 0.12 3 1.6E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 116 0.12 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 122 0.12 1 5.2E-03
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 120 0.12 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 222 0.11 5 1.0E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 120 0.11 1 5.6E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 420 182 0.11 6 1.0E-02
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 128 0.11 2 1.1E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 119 0.11 4 2.1E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 139 0.11 2 8.0E-03