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: C0040822
Disease: Tremor
Tremor 		528 0 138 0.11 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 126 0.11 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 129 0.11 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 126 0.11 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 126 0.11 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 125 0.11 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 169 0.11 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 99 0.11 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 136 0.11 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 123 0.11 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 135 0.11 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 0 113 0.11 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 110 0.10 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 109 0.10 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 99 0.10 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 182 0.10 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 117 0.10 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 99 0.10 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 123 0.10 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 100 0.10 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 115 0.10 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 96 0.10 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 178 0.10 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 92 0.10 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 111 1.0E-01 0 0