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: C0151526
Disease: Premature Birth
Premature Birth 		192 50 11 2.4E-02 2 1.5E-02
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		50 13 36 0.12 2 2.1E-02
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		2 5 1 3.5E-03 2 2.3E-02
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		373 95 38 6.1E-02 2 1.1E-02
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		15 5 6 2.0E-02 2 2.3E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 40 2.9E-02 2 5.3E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 20 2.8E-02 2 2.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 111 5.6E-02 2 3.1E-03
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy 		31 3 3 9.6E-03 2 2.4E-02
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		1 2 1 3.5E-03 2 2.4E-02
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		6 38 3 1.0E-02 2 1.7E-02
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		2 27 1 3.5E-03 2 1.8E-02
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		1 3 1 3.5E-03 2 2.4E-02
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		2 13 2 7.0E-03 2 2.1E-02
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		2 2 2 7.0E-03 2 2.4E-02
CUI: C4310676
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT 		1 3 1 3.5E-03 2 2.4E-02
CUI: C4310773
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 		1 2 1 3.5E-03 2 2.4E-02
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 78 4 1.4E-02 2 1.3E-02
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		1 2 1 3.5E-03 2 2.4E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		1183 839 43 3.0E-02 1 1.1E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		512 509 56 7.6E-02 1 1.7E-03
CUI: C0008370
Disease: Cholestasis
Cholestasis 		420 15 29 4.3E-02 1 1.0E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		1719 297 84 4.4E-02 1 2.6E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		3134 2672 110 3.3E-02 1 3.6E-04
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		510 56 17 2.2E-02 1 7.2E-03