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: C0036572
Disease: Seizures
Seizures 		2152 553 40 1.8E-02 1 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 40 2.2E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 39 4.5E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 38 3.9E-02 1 6.0E-03
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 30 34 6.2E-02 1 2.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 30 3.0E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 29 3.2E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 29 1.3E-02 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 0 27 3.1E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 27 4.5E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 26 0.11 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 26 4.1E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 26 3.2E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 26 4.1E-02 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 24 0.12 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 23 3.9E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 22 4.1E-02 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 21 2.1E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 21 0.17 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 20 2.3E-02 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 20 8.0E-02 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 19 2.2E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 19 5.4E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 19 8.3E-02 0 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		259 0 19 6.4E-02 0 0