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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 37 6.4E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 37 4.3E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 35 0.12 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 0 34 1.2E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 34 1.8E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 33 3.9E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 33 5.3E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 33 0.31 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 33 4.1E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 33 4.1E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 32 0.14 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 32 5.2E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 32 3.2E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 31 3.5E-02 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 31 2.9E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 30 0.14 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 30 8.9E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 30 4.1E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 30 6.3E-02 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 30 0.16 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 29 3.6E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 29 2.7E-02 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 31 29 0.47 1 2.9E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 28 5.1E-02 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 28 6.3E-02 0 0