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: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		39 6 29 0.26 2 0.14
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 21 0.19 0 0
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		50 0 19 0.14 0 0
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		34 0 17 0.14 0 0
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		29 0 16 0.14 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 24 0.13 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 16 0.11 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 13 0.11 0 0
CUI: C0013377
Disease: Dysgerminoma
Dysgerminoma 		42 0 14 0.11 0 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		127 83 22 0.11 1 1.1E-02
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 12 0.11 0 0
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		24 0 12 0.10 0 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		14 0 11 0.10 0 0
CUI: C1266157
Disease: Intratubular malignant germ cells
Intratubular malignant germ cells 		16 0 11 0.10 0 0
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		17 0 11 0.10 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 21 1.0E-01 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 20 9.8E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 1 10 9.6E-02 1 1.0E-01
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		162 0 23 9.5E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 11 9.4E-02 0 0
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		16 0 10 9.2E-02 0 0
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		17 0 10 9.1E-02 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 10 9.0E-02 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 15 8.9E-02 0 0
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		19 0 10 8.9E-02 0 0