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: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 8.3E-04 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: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 8.4E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 3 2.5E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 3 2.5E-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 5 4.1E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 4 3.3E-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: 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 1 8.4E-04 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6 		1 0 1 8.4E-04 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 1 8.4E-04 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 4 3.4E-03 1 4.1E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 2 1.7E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 16 1.3E-02 0 0
CUI: C1868355
Disease: 6-Phosphogluconolactonase Deficiency
6-Phosphogluconolactonase Deficiency 		1 0 1 8.4E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 10 25 2.1E-02 2 8.1E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 7 5.7E-03 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		2 0 1 8.4E-04 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 14 1.1E-02 0 0
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute 		2 0 1 8.4E-04 0 0