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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 106 9.1E-02 2 3.3E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 72 9.1E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 41 9.1E-02 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 29 9.1E-02 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 28 9.1E-02 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 31 9.0E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 34 8.9E-02 0 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		39 0 28 8.9E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 28 8.9E-02 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 28 8.9E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 91 8.4E-02 0 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		85 0 30 8.4E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 38 8.4E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		351 81 50 8.3E-02 1 9.7E-03
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		522 0 63 8.3E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 29 8.0E-02 0 0
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		945 50 92 8.0E-02 1 1.4E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 178 7.8E-02 3 5.2E-03
CUI: C0015672
Disease: Fatigue
Fatigue 		760 0 77 7.8E-02 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 29 7.8E-02 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 1 32 7.7E-02 1 4.3E-02
CUI: C0011175
Disease: Dehydration
Dehydration 		295 0 43 7.7E-02 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 37 7.7E-02 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 94 82 7.7E-02 1 8.6E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 44 7.7E-02 0 0