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: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 8.4E-04 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 8.4E-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 8.4E-04 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 8.4E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 8.3E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 5 4.1E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 8.4E-04 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 8.4E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 5 4.2E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 5 4.2E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 8.4E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 16 1.3E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 11 9.2E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 8.4E-04 0 0
CUI: C3714042
Disease: 46,XY Disorder of Sex Development Due To LH Defects
46,XY Disorder of Sex Development Due To LH Defects 		1 0 1 8.4E-04 0 0
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		1 0 1 8.4E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 4 3.3E-03 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 0 3 2.5E-03 0 0
CUI: C2748897
Disease: 46,Xy True Hermaphroditism, Sry-Related
46,Xy True Hermaphroditism, Sry-Related 		1 0 1 8.4E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 4 3.4E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 8.4E-04 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 2 1.7E-03 2 7.2E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 3 2.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 15 1.2E-02 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 8.4E-04 0 0