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: C1970200
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 		2 0 1 0.50 0 0
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		14 0 1 7.1E-02 0 0
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		14 0 1 7.1E-02 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 1 6.2E-02 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 1 2.4E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 1 2.0E-02 0 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		51 0 1 2.0E-02 0 0
CUI: C4721779
Disease: Ovarian cancer stage IV
Ovarian cancer stage IV 		51 0 1 2.0E-02 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 1 1.9E-02 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.4E-02 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 1.3E-02 0 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		77 0 1 1.3E-02 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.2E-02 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 9.8E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 8.9E-03 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 1 8.5E-03 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 1 7.4E-03 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 1 7.4E-03 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 1 7.1E-03 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 1 7.0E-03 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 1 6.8E-03 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 1 6.7E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 1 6.6E-03 0 0
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		157 0 1 6.4E-03 0 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		158 0 1 6.3E-03 0 0