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: C0239234
Disease: Low set ears
Low set ears 		489 64 74 0.11 1 1.4E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 35 0.11 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 29 0.11 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 77 0.11 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 95 0.11 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 35 0.11 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 34 0.11 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 28 0.10 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 30 0.10 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 33 0.10 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 113 0.10 1 5.7E-03
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 41 0.10 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 74 0.10 1 3.4E-02
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		87 0 32 0.10 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 29 9.9E-02 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 34 9.7E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 43 9.7E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 40 9.7E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 36 9.3E-02 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 34 9.2E-02 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 28 9.2E-02 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 68 9.2E-02 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 47 9.1E-02 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 36 9.1E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 61 9.1E-02 1 1.4E-02