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: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 1 1.1E-02 0 0
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		92 0 1 1.1E-02 0 0
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		100 0 1 1.0E-02 0 0
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		105 0 1 9.5E-03 0 0
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		117 0 1 8.5E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 7.4E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 7.0E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 1 6.9E-03 1 8.7E-03
CUI: C0332853
Disease: Anastomosis
Anastomosis 		155 0 1 6.5E-03 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 0 1 6.4E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 5.9E-03 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 1 5.8E-03 0 0
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		179 0 1 5.6E-03 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 1 5.3E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 5.3E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 9 1 4.8E-03 1 1.0E-01
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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 1 3.7E-03 1 9.3E-03
CUI: C0009806
Disease: Constipation
Constipation 		424 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: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		447 0 1 2.2E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 2.2E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.1E-03 0 0