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 7 1.9E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 3 8.1E-04 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 3 8.1E-04 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 1 2.7E-04 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		4 0 3 8.1E-04 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 2.7E-04 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 3 8.1E-04 0 0
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		5 0 4 1.1E-03 0 0
CUI: C4274528
Disease: 1q41q42 microdeletion syndrome
1q41q42 microdeletion syndrome 		4 0 1 2.7E-04 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		6 0 2 5.4E-04 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 31 8.4E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		27 0 6 1.6E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		14 0 5 1.4E-03 0 0
CUI: C4304531
Disease: 2q32q33 microdeletion syndrome
2q32q33 microdeletion syndrome 		2 0 1 2.7E-04 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 4 1.1E-03 0 0
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		2 0 1 2.7E-04 0 0
CUI: C1857776
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		3 0 1 2.7E-04 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 2 5.4E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		16 0 2 5.4E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		29 0 9 2.4E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		11 0 5 1.4E-03 0 0
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		4 0 1 2.7E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		5 0 3 8.1E-04 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 6 1.6E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 2.7E-04 0 0