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: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		4 0 2 0.14 0 0
CUI: C4025097
Disease: Ventilator dependence with inability to wean
Ventilator dependence with inability to wean 		4 0 2 0.14 0 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 1 3 0.12 1 0.11
CUI: C1968729
Disease: Increased muscle glycogen content
Increased muscle glycogen content 		6 0 2 0.12 0 0
CUI: C1839436
Disease: Severe lactic acidosis
Severe lactic acidosis 		8 0 2 0.11 0 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 6 2 0.11 1 7.1E-02
CUI: C0020039
Disease: Hostility
Hostility 		1 0 1 8.3E-02 0 0
CUI: C0021712
Disease: Myoclonus, Intention
Myoclonus, Intention 		1 0 1 8.3E-02 0 0
CUI: C0026210
Disease: Mirror Writing
Mirror Writing 		1 0 1 8.3E-02 0 0
CUI: C0030214
Disease: Myoclonus, Palatal
Myoclonus, Palatal 		1 0 1 8.3E-02 0 0
CUI: C0239846
Disease: Hand-wringing
Hand-wringing 		1 0 1 8.3E-02 0 0
CUI: C0425492
Disease: Irregular breathing
Irregular breathing 		1 0 1 8.3E-02 0 0
CUI: C0585540
Disease: Myoclonus, Oculopalatal
Myoclonus, Oculopalatal 		1 0 1 8.3E-02 0 0
CUI: C0751348
Disease: Myoclonus Simplex
Myoclonus Simplex 		1 0 1 8.3E-02 0 0
CUI: C0751350
Disease: Myoclonus, Lower Extremity
Myoclonus, Lower Extremity 		1 0 1 8.3E-02 0 0
CUI: C0751351
Disease: Myoclonus, Segmental
Myoclonus, Segmental 		1 0 1 8.3E-02 0 0
CUI: C0751352
Disease: Myoclonus, Nocturnal
Myoclonus, Nocturnal 		1 0 1 8.3E-02 0 0
CUI: C0751353
Disease: Myoclonus, Upper Extremity
Myoclonus, Upper Extremity 		1 0 1 8.3E-02 0 0
CUI: C1332865
Disease: Cavernous Sinus Meningioma
Cavernous Sinus Meningioma 		1 0 1 8.3E-02 0 0
CUI: C1510417
Disease: Gait Apraxia
Gait Apraxia 		1 0 1 8.3E-02 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 2 8.3E-02 0 0
CUI: C1839028
Disease: Mitochondrial Myopathy with Diabetes
Mitochondrial Myopathy with Diabetes 		1 0 1 8.3E-02 0 0
CUI: C1839332
Disease: Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Preserved Speech Variant 		1 0 1 8.3E-02 0 0
CUI: C1844946
Disease: Episodic hypoventilation
Episodic hypoventilation 		1 1 1 8.3E-02 1 0.11
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		1 0 1 8.3E-02 0 0