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: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 7 2.6E-02 2 0.12
CUI: C0751354
Disease: Myoclonus, Action
Myoclonus, Action 		6 1 1 4.7E-03 1 0.11
CUI: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio 		4 1 1 4.7E-03 1 0.11
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis 		1 1 1 4.8E-03 1 0.11
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 1 1 4.3E-03 1 0.11
CUI: C4280747
Disease: Choking episodes
Choking episodes 		12 1 2 9.2E-03 1 0.11
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects 		1 1 1 4.8E-03 1 0.11
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		15 1 2 9.0E-03 1 0.11
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 2 2 8.8E-03 1 1.0E-01
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence 		4 2 1 4.7E-03 1 1.0E-01
CUI: C2674512
Disease: Truncal titubation
Truncal titubation 		5 2 1 4.7E-03 1 1.0E-01
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		1 2 1 4.8E-03 1 1.0E-01
CUI: C4748826
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 		1 2 1 4.8E-03 1 1.0E-01
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		9 3 1 4.6E-03 1 9.1E-02
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		20 3 3 1.3E-02 1 9.1E-02
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		52 3 3 1.2E-02 1 9.1E-02
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		15 3 2 9.0E-03 1 9.1E-02
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 3 5 2.0E-02 1 9.1E-02
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		39 3 2 8.2E-03 1 9.1E-02
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		1 3 1 4.8E-03 1 9.1E-02
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		11 3 1 4.6E-03 1 9.1E-02
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 4 41 0.14 1 8.3E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 17 11 3.4E-02 2 8.3E-02
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		28 4 2 8.5E-03 1 8.3E-02
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 4 4 1.6E-02 1 8.3E-02