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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 73 0.12 1 1.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 83 0.11 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 91 0.11 1 1.5E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 89 0.11 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 93 0.11 2 1.1E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 49 0.11 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 35 0.11 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 75 0.11 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 85 0.11 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 47 0.11 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 100 0.11 1 9.7E-03
CUI: C0023380
Disease: Lethargy
Lethargy 		160 6 46 0.11 1 5.0E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 114 0.11 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 50 0.11 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 36 0.11 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 70 0.10 1 1.9E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 103 0.10 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 103 0.10 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 18 40 0.10 1 3.1E-02
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 33 0.10 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 59 0.10 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 40 0.10 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 128 0.10 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 60 0.10 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 74 0.10 1 1.3E-02