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: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 10 12 1.1E-02 2 5.9E-03
CUI: C4304532
Disease: 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome 		1 0 1 9.3E-04 0 0
CUI: C4304531
Disease: 2q32q33 microdeletion syndrome
2q32q33 microdeletion syndrome 		2 0 1 9.3E-04 0 0
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome 		1 0 1 9.3E-04 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 2 1.9E-03 0 0
CUI: C1857776
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		3 0 1 9.3E-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 9.3E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 2 1.8E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 8 7.3E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 9.2E-04 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 9.3E-04 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 9.3E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 4 3.7E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 5 4.6E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 9.3E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 7 6.4E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 5 4.6E-03 0 0
CUI: C3151782
Disease: 46,XX SEX REVERSAL 3
46,XX SEX REVERSAL 3 		1 0 1 9.3E-04 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 9.3E-04 0 0
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		1 0 1 9.3E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 5 4.6E-03 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 0 1 9.3E-04 0 0
CUI: C2748897
Disease: 46,Xy True Hermaphroditism, Sry-Related
46,Xy True Hermaphroditism, Sry-Related 		1 0 1 9.3E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 3 2.8E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 9.3E-04 0 0