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: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		8 42 3 0.19 1 1.3E-02
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 5 3 0.19 1 2.6E-02
CUI: C1457873
Disease: Os trigonum disorder
Os trigonum disorder 		2 0 2 0.18 0 0
CUI: C2197691
Disease: Scrotal hypospadias
Scrotal hypospadias 		2 0 2 0.18 0 0
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		9 0 3 0.18 0 0
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		3 0 2 0.17 0 0
CUI: C1848182
Disease: Blind vagina
Blind vagina 		3 0 2 0.17 0 0
CUI: C0221033
Disease: Trisomy X syndrome
Trisomy X syndrome 		12 0 3 0.15 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 5 0.14 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 2 0.14 0 0
CUI: C4551492
Disease: Micropenis
Micropenis 		32 0 5 0.13 0 0
CUI: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome 		7 0 2 0.12 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 7 0.12 0 0
CUI: C0404572
Disease: Female infertility associated with anovulation
Female infertility associated with anovulation 		8 0 2 0.12 0 0
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		8 15 2 0.12 1 2.0E-02
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		9 0 2 0.11 0 0
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		19 0 3 0.11 0 0
CUI: C0342381
Disease: Idiopathic growth hormone deficiency
Idiopathic growth hormone deficiency 		10 0 2 0.11 0 0
CUI: C0432475
Disease: XX males
XX males 		32 0 4 0.10 0 0
CUI: C0018055
Disease: Gonadal Dysgenesis, Mixed
Gonadal Dysgenesis, Mixed 		11 0 2 1.0E-01 0 0
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		11 0 2 1.0E-01 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 2 1.0E-01 0 0
CUI: C0856151
Disease: Fat redistribution
Fat redistribution 		12 0 2 9.5E-02 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 2 9.5E-02 0 0
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		24 7 3 9.4E-02 2 5.0E-02