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: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 21 95 0.24 1 2.9E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 217 0.20 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 70 0.20 0 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 0 76 0.19 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 68 0.19 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 161 0.19 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 219 0.18 9 3.0E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 88 0.18 1 1.9E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 236 0.18 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 71 0.18 5 0.24
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 125 0.16 1 1.1E-02
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 70 0.16 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 120 0.16 3 4.7E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 95 0.15 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 62 0.15 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 78 0.14 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 83 0.14 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 42 0.14 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 61 0.14 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 70 0.14 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 51 0.14 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 42 0.14 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 54 0.14 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 61 0.13 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 56 0.13 0 0