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: C1291311
Disease: Deficiency of dehydrogenase
Deficiency of dehydrogenase 		8 0 1 0.11 0 0
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin 		17 0 1 5.6E-02 0 0
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		18 0 1 5.3E-02 0 0
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		21 0 1 4.5E-02 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 2.9E-02 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 2.8E-02 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 2.1E-02 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 1 2.0E-02 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 1 1.9E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.7E-02 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 1 1.7E-02 0 0
CUI: C0428977
Disease: Bradycardia
Bradycardia 		63 0 1 1.6E-02 0 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		72 0 1 1.4E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.1E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 1 1.1E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 8.8E-03 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		116 0 1 8.5E-03 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 1 8.3E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 7.3E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 1 6.9E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 6.8E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 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: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 5.2E-03 0 0