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: C4021849
Disease: Conjunctival hamartoma
Conjunctival hamartoma 		10 0 8 0.80 0 0
CUI: C1969913
Disease: Generalized hyperkeratosis
Generalized hyperkeratosis 		16 0 8 0.50 0 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		16 0 8 0.50 0 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		18 0 8 0.44 0 0
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		20 0 8 0.40 0 0
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		23 0 8 0.35 0 0
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		4 0 3 0.33 0 0
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		4 0 3 0.33 0 0
CUI: C4025693
Disease: Hypertension associated with pheochromocytoma
Hypertension associated with pheochromocytoma 		4 0 3 0.33 0 0
CUI: C0017671
Disease: Glomus Jugulare Tumor
Glomus Jugulare Tumor 		5 0 3 0.30 0 0
CUI: C1859896
Disease: Progressive macrocephaly
Progressive macrocephaly 		5 0 3 0.30 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 8 0.27 0 0
CUI: C0332573
Disease: Macule
Macule 		31 0 8 0.26 0 0
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		7 0 3 0.25 0 0
CUI: C1332851
Disease: Cardiac Paraganglioma
Cardiac Paraganglioma 		2 0 2 0.25 0 0
CUI: C1854336
Disease: PARAGANGLIOMAS 3
PARAGANGLIOMAS 3 		2 0 2 0.25 0 0
CUI: C0334263
Disease: Trichilemmoma
Trichilemmoma 		8 0 3 0.23 0 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		35 0 8 0.23 0 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		36 0 8 0.22 0 0
CUI: C0040046
Disease: Thrombophlebitis
Thrombophlebitis 		3 0 2 0.22 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 8 0.22 0 0
CUI: C0238034
Disease: Intraductal papilloma of breast
Intraductal papilloma of breast 		3 0 2 0.22 0 0
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 0 2 0.22 0 0
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 0 2 0.22 0 0
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 0 2 0.22 0 0