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 2 9.6E-03 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 0 1 1.9E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 1 1.8E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 1 1.9E-03 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		2322 0 2 8.6E-04 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 2 1.3E-02 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 2 1.1E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.7E-03 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 0 1 1.6E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 1 4.6E-04 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 1 6.9E-03 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 1 3.3E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 1 1.9E-03 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 1 8.2E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.1E-03 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		116 0 1 8.5E-03 0 0
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		14 0 1 6.7E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 1 5.3E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 1.0E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 2 1.1E-03 0 0
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		14 0 1 6.7E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 0 1 3.5E-03 0 0