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: C4022801
Disease: Elevated CSF dopamine level
Elevated CSF dopamine level 		2 1 2 1.6E-02 1 0.50
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		47 2 2 1.2E-02 1 0.33
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 2 2 1.5E-02 1 0.33
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 7 6 2.2E-02 1 0.12
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		10 10 2 1.5E-02 1 9.1E-02
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 14 4 1.5E-02 1 6.7E-02
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		7 16 3 2.3E-02 1 5.9E-02
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 17 2 1.3E-02 1 5.6E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 10 2.4E-02 1 4.3E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 26 5 1.6E-02 1 3.7E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 6.4E-03 1 2.6E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		93 39 5 2.3E-02 1 2.5E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 11 2.2E-02 1 2.0E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 12 2.0E-02 1 1.8E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 36 7.0E-02 1 1.7E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 3 1.3E-02 1 1.7E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		632 63 39 5.4E-02 1 1.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 74 24 5.8E-02 1 1.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 3 6.6E-03 1 1.2E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 6 1.6E-02 1 1.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 5 1.3E-02 1 9.3E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 6 8.8E-03 1 5.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 32 1.7E-02 1 1.8E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 5 2.2E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 7.3E-03 0 0