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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 51 0.15 2 1.8E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 59 9.5E-02 2 1.0E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 6 3.0E-02 1 1.6E-04
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 82 3.7E-02 1 1.8E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 19 5.8E-02 1 3.1E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 29 67 0.27 1 2.9E-02
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		27 10 1 6.9E-03 1 6.7E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 67 5.1E-02 1 8.5E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 95 5.1E-02 1 1.8E-03
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 15 3.6E-02 1 3.6E-02
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 42 9 1.2E-02 1 2.1E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 24 1 5.7E-03 1 3.4E-02
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 101 10 3.5E-02 1 9.4E-03
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 9 3.8E-02 1 1.8E-02
CUI: C1837653
Disease: Inflexible adherence to routines or rituals
Inflexible adherence to routines or rituals 		5 1 1 8.2E-03 1 0.17
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 8 2.5E-02 1 2.4E-03
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		15 26 1 7.6E-03 1 3.2E-02
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		32 128 8 5.6E-02 1 7.5E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 16 4.8E-02 1 1.3E-02
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 6 2 1.5E-02 1 9.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 61 6.0E-02 1 5.9E-03
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 8 3.5E-02 1 3.4E-02
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		0 1 0 0 1 0.17
CUI: C3281202
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 		1 20 1 8.5E-03 1 4.0E-02
CUI: C4022524
Disease: Hypoplastic anterior commissure
Hypoplastic anterior commissure 		2 1 1 8.4E-03 1 0.17