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: C3280378
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA 		1 0 1 0.50 0 0
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		5 0 2 0.40 0 0
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		14 0 1 6.7E-02 0 0
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		14 0 1 6.7E-02 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 2 5.9E-02 0 0
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		21 0 1 4.5E-02 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 2 1.3E-02 0 0
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		92 0 1 1.1E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 2 1.1E-02 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 1.0E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 2 9.6E-03 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		116 0 1 8.5E-03 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 1 8.2E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		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: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 0 2 6.3E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 6.1E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 1 5.3E-03 0 0
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		233 0 1 4.3E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 3.5E-03 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 1 3.3E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 3.0E-03 0 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		413 0 1 2.4E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0