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: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		34 0 10 0.18 0 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		14 0 7 0.17 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 24 0.17 0 0
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		15 0 7 0.17 0 0
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		29 0 9 0.17 0 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts 		16 0 7 0.17 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 12 0.14 0 0
CUI: C1836623
Disease: Decreased circulating cortisol level
Decreased circulating cortisol level 		23 0 7 0.14 0 0
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		50 0 10 0.14 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		50 0 10 0.14 0 0
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		17 0 6 0.14 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 19 0.13 0 0
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		37 0 8 0.13 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 7 0.13 0 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea 		49 0 9 0.12 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 25 0.12 0 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		13 0 5 0.12 0 0
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		50 0 9 0.12 0 0
CUI: C1859436
Disease: Weak extraocular muscles
Weak extraocular muscles 		4 0 4 0.12 0 0
CUI: C4022775
Disease: Focal T2 hypointense thalamic lesion
Focal T2 hypointense thalamic lesion 		4 0 4 0.12 0 0
CUI: C4023215
Disease: Abnormality of central sensory function
Abnormality of central sensory function 		4 0 4 0.12 0 0
CUI: C4073063
Disease: Abnormal kinetic perimetry test
Abnormal kinetic perimetry test 		4 0 4 0.12 0 0
CUI: C4552960
Disease: Ear Pain, CTCAE
Ear Pain, CTCAE 		4 0 4 0.12 0 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		14 0 5 0.12 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 15 0.12 0 0