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 0.18 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		14 0 5 0.17 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 4 0.17 0 0
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		8 0 4 0.16 0 0
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		8 0 4 0.16 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		16 0 5 0.16 0 0
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 0 4 0.14 0 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		12 0 4 0.14 0 0
CUI: C4025278
Disease: Stress/infection-induced lactic acidosis
Stress/infection-induced lactic acidosis 		4 0 3 0.14 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		14 0 4 0.13 0 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy 		7 0 3 0.12 0 0
CUI: C4024705
Disease: Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II 		7 0 3 0.12 0 0
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		17 0 4 0.12 0 0
CUI: C0279821
Disease: metastatic pheochromocytoma
metastatic pheochromocytoma 		8 0 3 0.12 0 0
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		8 0 3 0.12 0 0
CUI: C1708998
Disease: Metastatic Adrenal Gland Pheochromocytoma
Metastatic Adrenal Gland Pheochromocytoma 		8 0 3 0.12 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 0 6 0.11 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 9 0.10 0 0
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		12 0 3 1.0E-01 0 0
CUI: C0277799
Disease: Intermittent fever
Intermittent fever 		2 2 2 9.5E-02 2 0.40
CUI: C0334416
Disease: Parasympathetic paraganglioma
Parasympathetic paraganglioma 		2 0 2 9.5E-02 0 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		37 0 5 9.4E-02 0 0
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety 		14 0 3 9.4E-02 0 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine 		14 0 3 9.4E-02 0 0
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina 		15 0 3 9.1E-02 0 0