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: C0268645
Disease: Cystinuria, type 3
Cystinuria, type 3 		1 0 1 0.50 0 0
CUI: C1150715
Disease: biotin-[acetyl-CoA-carboxylase] ligase activity
biotin-[acetyl-CoA-carboxylase] ligase activity 		1 0 1 0.50 0 0
CUI: C1857388
Disease: Cystinuria, Type A
Cystinuria, Type A 		1 0 1 0.50 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 2 0.50 0 0
CUI: C4755274
Disease: Atypical hypotonia cystinuria syndrome
Atypical hypotonia cystinuria syndrome 		4 0 2 0.50 0 0
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		6 0 2 0.33 0 0
CUI: C1857389
Disease: Cystinuria, Type B
Cystinuria, Type B 		2 0 1 0.33 0 0
CUI: C3698119
Disease: Inherited aminoaciduria
Inherited aminoaciduria 		2 0 1 0.33 0 0
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		2 0 1 0.33 0 0
CUI: C0268646
Disease: Isolated cystinuria
Isolated cystinuria 		3 0 1 0.25 0 0
CUI: C4025602
Disease: Ornithinuria
Ornithinuria 		3 0 1 0.25 0 0
CUI: C4025635
Disease: Argininuria
Argininuria 		3 0 1 0.25 0 0
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		4 0 1 0.20 0 0
CUI: C4021733
Disease: Hyperlysinuria
Hyperlysinuria 		4 0 1 0.20 0 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 2 0.18 0 0
CUI: C1866956
Disease: Aortic root dilation
Aortic root dilation 		9 0 1 1.0E-01 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 2 9.5E-02 0 0
CUI: C0010691
Disease: Cystinuria
Cystinuria 		22 0 2 9.1E-02 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		12 0 1 7.7E-02 0 0
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		31 0 2 6.5E-02 0 0
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 1 5.3E-02 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 0 1 5.3E-02 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 1 5.0E-02 0 0
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		19 0 1 5.0E-02 0 0
CUI: C0238506
Disease: Congenital posterior urethral valves
Congenital posterior urethral valves 		26 0 1 3.7E-02 0 0