Source: BEFREE ×
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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 6 3.0E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 4 2.0E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 7 3.5E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		4 0 1 5.1E-04 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 5.1E-04 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 5.1E-04 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 4 2.0E-03 0 0
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		5 0 1 5.1E-04 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		6 0 2 1.0E-03 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 2 1.0E-03 0 0
CUI: C2198591
Disease: 2-methylbutyrylglycinuria
2-methylbutyrylglycinuria 		1 0 1 5.1E-04 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 28 30 1.5E-02 3 3.3E-03
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		27 2 7 3.5E-03 1 1.1E-03
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		4 0 1 5.1E-04 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		14 1 4 2.0E-03 1 1.1E-03
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 3 1.5E-03 0 0
CUI: C0342826
Disease: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 		1 0 1 5.1E-04 0 0
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		5 0 1 5.1E-04 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		3 0 1 5.1E-04 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 5.1E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		16 0 1 5.0E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		29 0 8 4.0E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		11 0 3 1.5E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 5.1E-04 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 2 1.0E-03 0 0