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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 4.7E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 4.6E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 3.8E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 3.1E-03 0 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		413 0 1 2.4E-03 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 1 2.3E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 2.2E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 2.0E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.9E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 1 1.8E-03 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 1 1.8E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 1 1.8E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 1 1.8E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.7E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.6E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.4E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 1 1.3E-03 0 0
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		776 0 1 1.3E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.3E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0