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: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures 		5 0 4 0.27 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 4 0.24 0 0
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		8 0 4 0.22 0 0
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		8 0 4 0.22 0 0
CUI: C4025278
Disease: Stress/infection-induced lactic acidosis
Stress/infection-induced lactic acidosis 		4 0 3 0.20 0 0
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 0 4 0.19 0 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		12 0 4 0.18 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		14 0 4 0.17 0 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy 		7 0 3 0.17 0 0
CUI: C4024705
Disease: Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II 		7 0 3 0.17 0 0
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		8 0 3 0.16 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		16 0 4 0.15 0 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		32 0 6 0.15 0 0
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		17 0 4 0.15 0 0
CUI: C0334416
Disease: Parasympathetic paraganglioma
Parasympathetic paraganglioma 		2 0 2 0.14 0 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		27 0 5 0.14 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 11 6 0.13 1 9.1E-02
CUI: C1850447
Disease: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material 		3 0 2 0.13 0 0
CUI: C3203483
Disease: Pulmonary chondroma
Pulmonary chondroma 		3 0 2 0.13 0 0
CUI: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		3 0 2 0.13 0 0
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		29 0 5 0.13 0 0
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		12 0 3 0.13 0 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		21 0 4 0.13 0 0
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		4 0 2 0.12 0 0
CUI: C4025693
Disease: Hypertension associated with pheochromocytoma
Hypertension associated with pheochromocytoma 		4 0 2 0.12 0 0