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: C0022638
Disease: Ketosis
Ketosis 		119 11 29 0.12 1 6.2E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 33 0.11 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 43 0.11 1 1.1E-02
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 46 0.11 1 5.0E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 55 9.5E-02 2 3.0E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 84 9.2E-02 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 25 9.1E-02 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 25 9.0E-02 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 25 8.9E-02 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 29 8.5E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 86 8.3E-02 1 1.7E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 23 8.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 82 7.9E-02 2 1.2E-02
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 15 7.9E-02 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 14 7.8E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 39 7.6E-02 0 0
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		26 0 13 7.5E-02 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 23 7.5E-02 0 0
CUI: C1856438
Disease: Hypoketotic hypoglycemia
Hypoketotic hypoglycemia 		15 0 12 7.4E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 70 7.3E-02 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 18 6.9E-02 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 19 6.9E-02 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 27 6.8E-02 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 14 6.8E-02 0 0
CUI: C0085605
Disease: Liver Failure
Liver Failure 		293 0 28 6.6E-02 0 0