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: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		42 0 34 0.72 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 14 0.33 0 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		47 0 21 0.32 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 13 0.32 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 12 0.31 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 13 0.30 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 19 0.30 0 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 14 0.29 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 11 0.28 0 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 11 0.28 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 11 0.28 0 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		21 0 13 0.28 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 14 0.27 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 11 0.27 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 13 0.27 0 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		33 0 15 0.26 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 11 0.24 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 30 0.23 0 0
CUI: C0266371
Disease: Streak ovary
Streak ovary 		21 0 11 0.22 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 30 0.22 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 13 0.20 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 28 0.20 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 18 0.18 0 0
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		50 0 13 0.17 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 13 0.17 0 0