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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 1 3.4E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 1 3.5E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 6.7E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 5 1.7E-02 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 3.6E-03 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 3.6E-03 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 2 7.1E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 6 1.7E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 3.5E-03 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 1 3.4E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 3.6E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 28 10 3.1E-02 1 1.4E-02
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 2 6.5E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 6.8E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 2 6.9E-03 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 3.6E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 3.2E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 7.0E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 3 1.0E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 8 2.6E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 4 1.3E-02 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 3.5E-03 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 3.6E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 4 1.4E-02 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 0 3 1.1E-02 0 0