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: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		7 3 4 0.29 1 0.33
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 5 0.28 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 2 3 0.27 1 0.50
CUI: C0432475
Disease: XX males
XX males 		32 0 9 0.26 0 0
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		4 0 3 0.25 0 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		14 0 5 0.25 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 3 0.23 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 4 0.22 0 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 4 0.22 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 4 0.22 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 5 0.22 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 1 3 0.21 1 1.00
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
Ovotesticular Differences of Sex Development 		6 2 3 0.21 1 0.50
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		13 0 4 0.20 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 6 0.20 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 4 0.20 0 0
CUI: C3502495
Disease: Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 		2 0 2 0.18 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 4 0.18 0 0
CUI: C0036769
Disease: Sertoli Cell Tumor
Sertoli Cell Tumor 		9 0 3 0.18 0 0
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		9 0 3 0.18 0 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 5 0.17 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 4 0.17 0 0
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		3 0 2 0.17 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 4 0.16 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 5 0.16 0 0