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: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		8 45 7 0.78 1 2.0E-02
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		8 0 6 0.60 0 0
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		7 0 5 0.50 0 0
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia 		4 0 4 0.50 0 0
CUI: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures 		5 0 4 0.44 0 0
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		12 0 6 0.43 0 0
CUI: C0032268
Disease: Pneumocephalus
Pneumocephalus 		6 0 4 0.40 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 4 0.36 0 0
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		15 0 6 0.35 0 0
CUI: C4025278
Disease: Stress/infection-induced lactic acidosis
Stress/infection-induced lactic acidosis 		4 0 3 0.33 0 0
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		19 0 6 0.29 0 0
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 0 4 0.27 0 0
CUI: C0334416
Disease: Parasympathetic paraganglioma
Parasympathetic paraganglioma 		2 0 2 0.25 0 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		12 0 4 0.25 0 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy 		7 0 3 0.25 0 0
CUI: C4024705
Disease: Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II 		7 0 3 0.25 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		14 0 4 0.22 0 0
CUI: C1858592
Disease: Carney Triad
Carney Triad 		25 0 6 0.22 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		14 0 4 0.22 0 0
CUI: C3203483
Disease: Pulmonary chondroma
Pulmonary chondroma 		3 0 2 0.22 0 0
CUI: C0236053
Disease: Mucosal ulcer
Mucosal ulcer 		15 0 4 0.21 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		16 0 4 0.20 0 0
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		4 67 2 0.20 1 1.4E-02
CUI: C4025693
Disease: Hypertension associated with pheochromocytoma
Hypertension associated with pheochromocytoma 		4 0 2 0.20 0 0
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		17 0 4 0.19 0 0