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: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 30 6.5E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 28 6.4E-02 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 20 6.3E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 18 6.3E-02 1 1.3E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 31 6.3E-02 1 9.8E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 40 6.2E-02 0 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		135 0 12 6.1E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 49 6.1E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 49 6.1E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 23 6.0E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 6 6.0E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 31 6.0E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 51 6.0E-02 2 2.0E-02
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 6 5.9E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 7 5.9E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 16 5.9E-02 0 0
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
Oxidative Phosphorylation Deficiencies 		18 0 5 5.8E-02 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 5 5.8E-02 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 13 5.6E-02 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 5 5.6E-02 0 0
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		22 0 5 5.6E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 31 5.5E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 7 5.5E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 10 5.4E-02 1 2.3E-02
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		65 0 7 5.3E-02 0 0