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 0.31 0 0
Abnormal atrioventricular conduction
7 0 4 0.27 0 0
Succinate-coenzyme Q reductase deficiency
8 0 4 0.25 0 0
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
8 0 4 0.25 0 0
Stress/infection-induced lactic acidosis
4 0 3 0.23 0 0
Progressive psychomotor deterioration
11 0 4 0.21 0 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy
7 0 3 0.19 0 0
Decreased activity of mitochondrial complex II
7 0 3 0.19 0 0
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex
14 0 4 0.18 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration
14 0 4 0.18 0 0
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm
8 0 3 0.18 0 0
CUI: C0334416
Disease: Parasympathetic paraganglioma
Parasympathetic paraganglioma
2 0 2 0.17 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs
16 0 4 0.17 0 0
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
17 0 4 0.16 0 0
CUI: C3203483
Disease: Pulmonary chondroma
Pulmonary chondroma
3 0 2 0.15 0 0
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma
12 0 3 0.14 0 0
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
4 0 2 0.14 0 0
Hypertension associated with pheochromocytoma
4 0 2 0.14 0 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
21 0 4 0.14 0 0
CUI: C0017671
Disease: Glomus Jugulare Tumor
Glomus Jugulare Tumor
5 0 2 0.13 0 0
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety
14 0 3 0.13 0 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine
14 0 3 0.13 0 0
Hereditary Paraganglioma-Pheochromocytoma Syndrome
23 0 4 0.13 0 0
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina
15 0 3 0.12 0 0
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma
15 0 3 0.12 0 0