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: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 5 6.6E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 5 6.5E-02 0 0
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 0 6 6.5E-02 0 0
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		19 0 4 6.2E-02 0 0
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		19 0 4 6.2E-02 0 0
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		20 0 4 6.2E-02 0 0
CUI: C0235222
Disease: Diastolic hypertension
Diastolic hypertension 		21 0 4 6.1E-02 0 0
CUI: C0745133
Disease: Isolated systolic hypertension
Isolated systolic hypertension 		22 0 4 6.0E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 7 5.9E-02 0 0
CUI: C1527168
Disease: Bonnevie-Ullrich Syndrome
Bonnevie-Ullrich Syndrome 		5 0 3 5.9E-02 0 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		23 0 4 5.9E-02 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 6 5.9E-02 0 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		23 0 4 5.9E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 13 5.8E-02 0 0
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		61 0 6 5.8E-02 0 0
CUI: C1858592
Disease: Carney Triad
Carney Triad 		25 0 4 5.7E-02 0 0
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		81 0 7 5.7E-02 0 0
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		7 0 3 5.7E-02 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		64 0 6 5.6E-02 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 9 5.6E-02 0 0
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		9 0 3 5.5E-02 0 0
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		29 0 4 5.4E-02 0 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		11 0 3 5.3E-02 0 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		31 0 4 5.3E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 3 5.2E-02 0 0