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: C0277799
Disease: Intermittent fever
Intermittent fever 		2 2 2 0.67 2 0.67
CUI: C4022160
Disease: Motheaten muscle fibers
Motheaten muscle fibers 		1 1 1 0.33 1 0.33
CUI: C0270820
Disease: Gelastic Epilepsy
Gelastic Epilepsy 		7 2 2 0.25 2 0.67
CUI: C1849489
Disease: Increased serum alanine
Increased serum alanine 		2 3 1 0.25 1 0.20
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature 		4 2 1 0.17 1 0.25
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		5 3 1 0.14 1 0.20
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		21 5 2 9.1E-02 2 0.33
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		10 1 1 8.3E-02 1 0.33
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		11 1 1 7.7E-02 1 0.33
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		11 8 1 7.7E-02 1 1.0E-01
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		12 5 1 7.1E-02 1 0.14
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 2 1 7.1E-02 1 0.25
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 6 2 6.1E-02 2 0.29
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		16 6 1 5.6E-02 1 0.12
CUI: C0041105
Disease: Trismus
Trismus 		18 2 1 5.0E-02 1 0.25
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		18 0 1 5.0E-02 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 10 2 4.8E-02 2 0.18
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		23 2 1 4.0E-02 1 0.25
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 9 2 2.6E-02 2 0.20
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		37 4 1 2.6E-02 1 0.17
CUI: C0032302
Disease: Mycoplasma pneumonia
Mycoplasma pneumonia 		43 0 1 2.2E-02 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 1 2.2E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 14 2 2.1E-02 2 0.13
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		51 0 1 1.9E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 1 1.8E-02 0 0