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: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		33 0 24 0.27 0 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		47 0 24 0.23 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 36 0.21 0 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		42 0 21 0.21 0 0
CUI: C0266371
Disease: Streak ovary
Streak ovary 		21 0 16 0.19 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 19 0.18 0 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		39 0 18 0.18 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 20 0.18 0 0
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		42 0 18 0.17 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 28 0.16 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 29 0.16 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 13 0.16 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 14 0.16 0 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 14 0.16 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 13 0.15 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 13 0.15 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 14 0.15 0 0
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		50 0 17 0.15 0 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		21 0 13 0.15 0 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 0 33 0.15 0 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		43 0 15 0.14 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 11 0.14 0 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 11 0.14 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 11 0.14 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 11 0.14 0 0