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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		620 0 110 0.13 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 51 0.13 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 85 0.13 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 60 0.13 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 54 0.13 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 42 0.12 0 0
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		150 18 49 0.12 1 2.4E-02
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 37 0.12 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 54 0.12 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 44 0.12 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 106 0.11 1 2.8E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 0 106 0.11 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 128 0.11 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		76 0 37 0.11 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 65 0.11 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 151 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 49 0.10 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 132 0.10 0 0
CUI: C0004509
Disease: Azoospermia
Azoospermia 		254 70 51 0.10 1 1.1E-02
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 45 9.9E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 32 9.7E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 53 9.7E-02 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 33 9.6E-02 0 0
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		154 0 40 9.5E-02 0 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		168 0 41 9.5E-02 0 0