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: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 22 0.14 7 5.1E-02
CUI: C4748753
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 		1 5 1 2.5E-02 2 5.9E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 2 6.9E-03 1 2.6E-03
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		52 3 4 4.5E-02 1 3.0E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 11 3.2E-02 1 1.4E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 4 1.0E-02 1 3.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 32 3.3E-02 1 1.6E-03
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 17 30 0.15 1 2.1E-02
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 4 29 0.47 1 2.9E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 5 4.3E-03 1 3.1E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 3 1.3E-02 1 6.4E-03
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		46 7 1 1.2E-02 1 2.7E-02
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		100 46 6 4.5E-02 1 1.3E-02
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		12 3 2 4.0E-02 1 3.0E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 9 6.0E-02 1 1.9E-02
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 3 29 0.56 1 3.0E-02
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 8 1 8.8E-03 1 2.6E-02
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 24 2 2.6E-02 1 1.9E-02
CUI: C4225421
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 		1 2 1 2.5E-02 1 3.1E-02
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		1 5 1 2.5E-02 1 2.9E-02
CUI: C4748785
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 		1 3 1 2.5E-02 1 3.0E-02
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		1 5 1 2.5E-02 1 2.9E-02
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		1 2 1 2.5E-02 1 3.1E-02
CUI: C4748827
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 		1 1 1 2.5E-02 1 3.2E-02
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute 		2 0 1 2.4E-02 0 0