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: C1866284
Disease: Motor deterioration
Motor deterioration
14 0 6 0.15 0 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay
27 0 7 0.13 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex
14 0 5 0.12 0 0
CUI: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures
5 0 4 0.12 0 0
Abnormal atrioventricular conduction
7 0 4 0.11 0 0
Succinate-coenzyme Q reductase deficiency
8 0 4 0.11 0 0
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
8 0 4 0.11 0 0
Progressive psychomotor deterioration
11 0 4 0.10 0 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
12 0 4 1.0E-01 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk
37 0 6 9.5E-02 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
75 0 9 9.2E-02 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs
16 0 4 9.1E-02 0 0
Stress/infection-induced lactic acidosis
4 0 3 9.1E-02 0 0
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
17 0 4 8.9E-02 0 0
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
5 0 3 8.8E-02 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
30 0 5 8.8E-02 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
106 0 11 8.7E-02 0 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy
7 0 3 8.3E-02 0 0
Decreased activity of mitochondrial complex II
7 0 3 8.3E-02 0 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
86 0 9 8.3E-02 0 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
21 0 4 8.2E-02 0 0
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm
8 0 3 8.1E-02 0 0
CUI: C0392699
Disease: Dysesthesia
Dysesthesia
22 0 4 8.0E-02 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis
50 0 6 7.9E-02 0 0
Paroxysmal nonkinesigenic dyskinesia
10 0 3 7.7E-02 0 0