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: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		150 18 71 0.28 13 0.57
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 63 0.26 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 75 0.25 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 58 0.24 0 0
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		86 30 50 0.23 2 4.3E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 69 0.21 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 52 0.20 0 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		47 0 38 0.20 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 76 0.19 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 34 0.18 0 0
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		82 66 39 0.18 7 9.1E-02
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		50 0 34 0.18 0 0
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		154 0 47 0.16 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 32 0.16 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 33 0.16 0 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		168 0 47 0.16 0 0
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		42 8 29 0.15 1 4.0E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 0 36 0.15 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 28 0.15 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		40 0 28 0.15 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 33 0.15 0 0
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		69 0 31 0.14 0 0
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		47 0 28 0.14 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 59 0.14 1 2.4E-02
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		73 0 30 0.14 0 0