Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Cyclical vomiting syndrome (disorder)
1 1 1 0.50 1 0.33
CUI: C1838818
Disease: MUSCLE STIFFNESS, PAINFUL
MUSCLE STIFFNESS, PAINFUL
1 1 1 0.50 1 0.33
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
1 1 1 0.50 1 0.33
CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
1 0 1 0.50 0 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH
1 0 1 0.50 0 0
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
1 0 1 0.50 0 0
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED
1 0 1 0.50 0 0
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome
2 0 1 0.33 0 0
Weakness of orbicularis oculi muscle
2 0 1 0.33 0 0
Macular Degeneration, Age-Related, 2
2 18 1 0.33 1 5.0E-02
Progressive intervertebral space narrowing
3 0 1 0.25 0 0
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
3 0 1 0.25 0 0
CUI: C4023067
Disease: Sternocleidomastoid amyotrophy
Sternocleidomastoid amyotrophy
3 0 1 0.25 0 0
Electrocardiogram atrioventricular block complete heart block
4 0 1 0.20 0 0
Ventilator dependence with inability to wean
4 0 1 0.20 0 0
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs
5 0 1 0.17 0 0
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME
5 5 1 0.17 1 0.14
Muscle abnormality related to mitochondrial dysfunction
5 0 1 0.17 0 0
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
6 0 1 0.14 0 0
CUI: C1968729
Disease: Increased muscle glycogen content
Increased muscle glycogen content
6 0 1 0.14 0 0
CUI: C0011206
Disease: Delirium
Delirium
7 0 1 0.12 0 0
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome
7 13 1 0.12 1 6.7E-02
CUI: C1839436
Disease: Severe lactic acidosis
Severe lactic acidosis
8 0 1 0.11 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
9 0 1 1.0E-01 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
21 46 2 9.5E-02 2 4.3E-02