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: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		90 5 90 0.60 5 0.28
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 18 71 0.28 13 0.57
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 41 0.18 0 0
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		86 30 34 0.17 2 4.3E-02
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		50 0 27 0.16 0 0
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		42 8 24 0.14 1 4.0E-02
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 34 0.14 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 34 0.14 0 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		47 0 24 0.14 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 23 0.13 0 0
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		82 66 26 0.13 4 5.0E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 41 0.13 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 49 0.12 1 2.4E-02
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		26 0 18 0.11 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 19 0.11 0 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		58 0 21 0.11 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 23 0.11 0 0
CUI: C4025569
Disease: Eunuchoid habitus
Eunuchoid habitus 		21 0 17 0.11 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 19 0.10 0 0
CUI: C4551492
Disease: Micropenis
Micropenis 		32 0 17 0.10 0 0
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		162 21 29 0.10 1 2.6E-02
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 18 0.10 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 32 0.10 0 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		24 0 16 0.10 0 0
CUI: C0271578
Disease: Female hypogonadism syndrome
Female hypogonadism syndrome 		25 0 16 0.10 0 0