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: C0266371
Disease: Streak ovary
Streak ovary 		21 0 18 0.32 0 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		33 0 18 0.26 0 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		42 0 19 0.25 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 12 0.23 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 11 0.21 0 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 11 0.21 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 11 0.21 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 12 0.21 0 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 13 0.21 0 0
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		29 0 14 0.21 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 12 0.20 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 11 0.20 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 13 0.20 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 11 0.19 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 13 0.19 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 11 0.19 0 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		13 0 10 0.18 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 20 0.18 0 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		21 0 11 0.17 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 11 0.17 0 0
CUI: C0266427
Disease: Testicular regression syndrome
Testicular regression syndrome 		37 0 13 0.17 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 5 11 0.16 2 0.22
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		162 21 30 0.16 6 0.29
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		34 0 12 0.16 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 14 0.16 0 0