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: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		1 0 1 0.33 0 0
CUI: C3279708
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 		1 0 1 0.33 0 0
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		8 0 2 0.22 0 0
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		3 0 1 0.20 0 0
CUI: C4085580
Disease: Carbamoyl Phosphate Synthase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency 		3 0 1 0.20 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 0.17 0 0
CUI: C0016325
Disease: Fluoride Poisoning
Fluoride Poisoning 		6 0 1 0.12 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 2 9.5E-02 0 0
CUI: C1689817
Disease: Cardiomyopathy associated with another disorder
Cardiomyopathy associated with another disorder 		10 0 1 8.3E-02 0 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		27 0 1 3.4E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 3.1E-02 0 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		33 0 1 2.9E-02 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 1 2.4E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 1 2.1E-02 0 0
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		49 0 1 2.0E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 1 1.9E-02 0 0
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		52 0 1 1.9E-02 0 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		53 0 1 1.8E-02 0 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 1 1.8E-02 0 0
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		63 0 1 1.5E-02 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 1 1.2E-02 0 0
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		89 0 1 1.1E-02 0 0
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		95 0 1 1.0E-02 0 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		95 0 1 1.0E-02 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 1.0E-02 0 0