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 3 1.7E-02 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 1 6.0E-03 0 0
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		1 0 1 6.2E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 5.5E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 3 1.8E-02 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 6.2E-03 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 2 1.2E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 3 1.2E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 12 5.9E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 5.2E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 3 1.7E-02 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 5.9E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 3 1.6E-02 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 5 3.1E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 6 3.6E-02 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 2 1.2E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 15 8.5E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 5 12 6.9E-02 2 8.3E-02
CUI: C3151782
Disease: 46,XX SEX REVERSAL 3
46,XX SEX REVERSAL 3 		1 0 1 6.2E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 2 1.2E-02 0 0
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		1 27 1 6.2E-03 3 6.7E-02
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 8 4.8E-02 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 20 1 6.1E-03 1 2.5E-02
CUI: C2752149
Disease: 46,XY Sex Reversal 4
46,XY Sex Reversal 4 		1 0 1 6.2E-03 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6 		1 0 1 6.2E-03 0 0