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: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 48 0.13 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 39 0.12 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 57 0.12 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 63 0.12 2 1.1E-02
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 42 0.12 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 48 0.11 0 0
CUI: C0009806
Disease: Constipation
Constipation 		424 57 75 0.11 9 7.4E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 52 0.11 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 68 0.11 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 66 0.10 0 0
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		373 95 64 0.10 2 1.2E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		1263 112 145 0.10 7 3.9E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 52 9.9E-02 1 9.3E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 123 9.8E-02 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 75 9.7E-02 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 52 74 9.7E-02 3 2.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 187 9.6E-02 15 2.5E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 55 9.5E-02 3 3.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 110 9.5E-02 6 2.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 61 9.0E-02 1 8.9E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 43 9.0E-02 13 2.8E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 167 9.0E-02 15 4.2E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 22 40 8.9E-02 4 4.3E-02
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 9 33 8.9E-02 2 2.5E-02
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		421 120 60 8.9E-02 6 3.2E-02