Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Multiple Endocrine Neoplasia Type 2a
69 44 46 0.58 27 0.49
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal
38 0 14 0.17 0 0
Hereditary Paraganglioma-Pheochromocytoma Syndrome
23 0 11 0.16 0 0
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
65 11 15 0.14 5 0.11
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
174 187 28 0.14 1 4.5E-03
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
10 0 8 0.14 0 0
CUI: C1704374
Disease: Carcinoma of Endocrine Gland
Carcinoma of Endocrine Gland
22 0 9 0.13 0 0
CUI: C4023099
Disease: Elevated urinary dopamine
Elevated urinary dopamine
15 0 8 0.13 0 0
CUI: C4025594
Disease: Positive regitine blocking test
Positive regitine blocking test
15 0 8 0.13 0 0
CUI: C4025626
Disease: Elevated urinary norepinephrine
Elevated urinary norepinephrine
15 0 8 0.13 0 0
CUI: C0280788
Disease: Anaplastic Ependymoma
Anaplastic Ependymoma
28 0 9 0.12 0 0
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain
39 0 10 0.12 0 0
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy
24 0 8 0.11 0 0
CUI: C1387805
Disease: Episodic paroxysmal anxiety
Episodic paroxysmal anxiety
14 0 7 0.11 0 0
CUI: C1868393
Disease: Elevated urinary epinephrine
Elevated urinary epinephrine
14 0 7 0.11 0 0
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
165 36 22 0.11 1 1.4E-02
CUI: C0730303
Disease: Capillary hemangioma of retina
Capillary hemangioma of retina
15 0 7 0.11 0 0
CUI: C4022998
Disease: Arachnoid hemangiomatosis
Arachnoid hemangiomatosis
15 0 7 0.11 0 0
Familial medullary thyroid carcinoma
56 45 11 0.11 27 0.48
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
88 6387 14 0.11 12 1.9E-03
CUI: C0522357
Disease: Vertigo, Paroxysmal
Vertigo, Paroxysmal
16 0 7 0.11 0 0
CUI: C4293708
Disease: Recurrent paroxysmal headache
Recurrent paroxysmal headache
16 0 7 0.11 0 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin
17 0 7 0.11 0 0
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia
29 0 8 0.10 0 0
CUI: C1857175
Disease: Episodic hypertension
Episodic hypertension
8 0 6 0.10 0 0