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: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		50 0 16 0.25 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 11 0.25 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 9 0.24 0 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 10 0.24 0 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		14 0 8 0.23 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 7 0.21 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 8 0.21 0 0
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria 		13 0 7 0.20 0 0
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		103 0 21 0.19 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 7 0.19 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 13 0.19 0 0
CUI: C0555232
Disease: pseudohermaphrodite (non-specific)
pseudohermaphrodite (non-specific) 		9 0 6 0.19 0 0
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		10 0 6 0.18 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 7 0.18 0 0
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		17 0 7 0.18 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 6 0.18 0 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 6 0.18 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 6 0.18 0 0
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		39 6 10 0.17 1 6.7E-02
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		13 0 6 0.17 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 6 0.17 0 0
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
Ovotesticular Differences of Sex Development 		6 2 5 0.17 1 9.1E-02
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		21 0 7 0.16 0 0
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		7 3 5 0.16 1 8.3E-02
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		29 0 8 0.16 0 0