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: C4022830
Disease: Heavy proteinuria
Heavy proteinuria 		2 0 2 0.25 0 0
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		4 0 2 0.20 0 0
CUI: C4023481
Disease: EEG with focal spikes
EEG with focal spikes 		4 0 2 0.20 0 0
CUI: C4025097
Disease: Ventilator dependence with inability to wean
Ventilator dependence with inability to wean 		4 0 2 0.20 0 0
CUI: C1850069
Disease: Undetectable visual evoked potentials
Undetectable visual evoked potentials 		6 0 2 0.17 0 0
CUI: C1968729
Disease: Increased muscle glycogen content
Increased muscle glycogen content 		6 0 2 0.17 0 0
CUI: C0034350
Disease: Pyruvate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors 		1 0 1 0.12 0 0
CUI: C1838876
Disease: MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE 		1 0 1 0.12 0 0
CUI: C1839028
Disease: Mitochondrial Myopathy with Diabetes
Mitochondrial Myopathy with Diabetes 		1 0 1 0.12 0 0
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT 		1 0 1 0.12 0 0
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		1 0 1 0.12 0 0
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		1 0 1 0.12 0 0
CUI: C4016608
Disease: MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS 		1 0 1 0.12 0 0
CUI: C4022677
Disease: Female anorgasmia
Female anorgasmia 		1 0 1 0.12 0 0
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		1 0 1 0.12 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 0.12 0 0
CUI: C0741270
Disease: Intermittent ataxia
Intermittent ataxia 		2 0 1 0.11 0 0
CUI: C0749201
Disease: Orthostatic syncope
Orthostatic syncope 		2 0 1 0.11 0 0
CUI: C0751595
Disease: Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease 		2 0 1 0.11 0 0
CUI: C0751596
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal 		2 0 1 0.11 0 0
CUI: C0751597
Disease: Ataxia with Lactic Acidosis, Type I
Ataxia with Lactic Acidosis, Type I 		2 0 1 0.11 0 0
CUI: C1838877
Disease: Myoglobinuria, Recurrent
Myoglobinuria, Recurrent 		2 0 1 0.11 0 0
CUI: C1839030
Disease: Weakness of orbicularis oculi muscle
Weakness of orbicularis oculi muscle 		2 0 1 0.11 0 0
CUI: C1850534
Disease: Edema, generalized
Edema, generalized 		12 0 2 0.11 0 0
CUI: C1868524
Disease: Autonomic erectile dysfunction
Autonomic erectile dysfunction 		2 0 1 0.11 0 0