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: C4025602
Disease: Ornithinuria
Ornithinuria 		3 0 3 0.75 0 0
CUI: C4025635
Disease: Argininuria
Argininuria 		3 0 3 0.75 0 0
CUI: C4021733
Disease: Hyperlysinuria
Hyperlysinuria 		4 0 3 0.60 0 0
CUI: C1857389
Disease: Cystinuria, Type B
Cystinuria, Type B 		2 0 2 0.50 0 0
CUI: C3698119
Disease: Inherited aminoaciduria
Inherited aminoaciduria 		2 0 2 0.50 0 0
CUI: C0268645
Disease: Cystinuria, type 3
Cystinuria, type 3 		1 0 1 0.25 0 0
CUI: C0598675
Disease: inborn aminoaciduria
inborn aminoaciduria 		1 0 1 0.25 0 0
CUI: C0856208
Disease: Increased serum zinc
Increased serum zinc 		1 0 1 0.25 0 0
CUI: C1857388
Disease: Cystinuria, Type A
Cystinuria, Type A 		1 0 1 0.25 0 0
CUI: C4023102
Disease: Elevated plasma citrulline
Elevated plasma citrulline 		2 0 1 0.20 0 0
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		2 0 1 0.20 0 0
CUI: C0010691
Disease: Cystinuria
Cystinuria 		22 83 4 0.18 3 3.4E-02
CUI: C0268646
Disease: Isolated cystinuria
Isolated cystinuria 		3 0 1 0.17 0 0
CUI: C0024788
Disease: Marburg Virus Disease
Marburg Virus Disease 		4 0 1 0.14 0 0
CUI: C0267839
Disease: Hepatic amyloidosis
Hepatic amyloidosis 		4 0 1 0.14 0 0
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		4 0 1 0.14 0 0
CUI: C0751629
Disease: Toxoplasmosis, Central Nervous System
Toxoplasmosis, Central Nervous System 		4 0 1 0.14 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 1 0.14 0 0
CUI: C4755274
Disease: Atypical hypotonia cystinuria syndrome
Atypical hypotonia cystinuria syndrome 		4 0 1 0.14 0 0
CUI: C0268647
Disease: Lysinuric Protein Intolerance
Lysinuric Protein Intolerance 		21 0 3 0.14 0 0
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage 		5 0 1 0.12 0 0
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage 		5 0 1 0.12 0 0
CUI: C1839533
Disease: Hyperglutaminemia
Hyperglutaminemia 		5 0 1 0.12 0 0
CUI: C0017614
Disease: Glaucoma, Suspect
Glaucoma, Suspect 		6 0 1 0.11 0 0
CUI: C0268128
Disease: Orotic aciduria
Orotic aciduria 		6 0 1 0.11 0 0