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: C4304531
Disease: 2q32q33 microdeletion syndrome
2q32q33 microdeletion syndrome 		2 0 1 9.1E-04 0 0
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome 		1 0 1 9.1E-04 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 4 3.6E-03 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 9.1E-04 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 9.1E-04 0 0
CUI: C1857776
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		3 0 1 9.1E-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 9.1E-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 9.1E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 3 2.7E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 6 5.3E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 9.0E-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 9.1E-04 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 9.1E-04 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria 		2 0 1 9.1E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 5 4.5E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 6 5.4E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 9.1E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 13 1.2E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 7 6.3E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 9.1E-04 0 0
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		1 0 1 9.1E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 11 1.0E-02 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 0 2 1.8E-03 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6 		1 0 1 9.1E-04 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		2 0 1 9.1E-04 0 0