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: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 1 7.8E-04 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 2 1.6E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 7.8E-04 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 7.8E-04 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 2 1.6E-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 7.8E-04 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 7.8E-04 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 7.7E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 6 4.6E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 3 2.3E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 7.8E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 1.6E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 7.7E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 5 3.8E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 4 3.1E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 7.7E-04 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		2 0 1 7.8E-04 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 4 3.1E-03 4 9.0E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 2 1.6E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 1 20 1.5E-02 1 2.3E-03
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 7.8E-04 0 0
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 7.8E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 10 28 2.2E-02 2 4.5E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 5 3.8E-03 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 1 7.7E-04 0 0