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: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 3.2E-04 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 28 37 1.2E-02 2 7.4E-04
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 2 9 2.9E-03 1 3.7E-04
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 4 1.3E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 10 8 2.5E-03 1 3.7E-04
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 8 2.6E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 3.2E-04 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 2 6.4E-04 0 0
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		2 0 1 3.2E-04 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 3.2E-04 0 0
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		5 0 2 6.4E-04 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 3.2E-04 0 0
CUI: C0342737
Disease: 3-Hydroxyisobutyric aciduria
3-Hydroxyisobutyric aciduria 		2 0 1 3.2E-04 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 2 6.4E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 2 6.3E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 13 4.1E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 5 1.6E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 3.2E-04 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 3.2E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 3 9.6E-04 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 3 9.5E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 12 3.8E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 7 2.2E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 3.2E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 4 1.3E-03 0 0