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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 34 4.0E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 34 1.9E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 33 3.8E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 33 5.8E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 33 3.9E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 33 0.35 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 33 4.2E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 33 4.2E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 32 5.3E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 32 0.16 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 32 3.3E-02 1 1.6E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 32 5.2E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 31 0.14 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 0 31 1.1E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 31 3.9E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 31 9.6E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 31 4.3E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 31 0.11 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 30 2.9E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 30 2.8E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 30 0.25 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 30 6.4E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 17 30 0.15 1 2.1E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 30 0.17 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 29 5.4E-02 0 0