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 0 2 2.7E-03 0 0
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		2 0 2 2.8E-03 0 0
CUI: C4304532
Disease: 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome 		1 0 1 1.4E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 2 2.7E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 2 2.8E-03 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 3 4.1E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 2 2.8E-03 0 0
CUI: C1857776
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		3 0 1 1.4E-03 0 0
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		5 0 1 1.4E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 6 8.1E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 4 5.3E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 1.4E-03 0 0
CUI: C4039473
Disease: 3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 5 		1 0 1 1.4E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 2 2.8E-03 0 0
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		1 0 1 1.4E-03 0 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria 		3 0 1 1.4E-03 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 1.4E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 2 2.8E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 2 2.8E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 1.4E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 5 6.9E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 8 1.1E-02 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 1.4E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 18 2.4E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 11 1.5E-02 0 0