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: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 11 0.17 0 0
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		14 0 5 0.17 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 7 0.16 0 0
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		17 0 5 0.15 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 11 0.15 0 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		80 0 13 0.15 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 4 0.14 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 18 0.14 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 6 0.14 0 0
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		4 0 3 0.14 0 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		13 0 4 0.13 0 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		90 0 13 0.13 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 3 0.13 0 0
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		50 0 8 0.13 0 0
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		6 0 3 0.12 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 3 0.12 0 0
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
Ovotesticular Differences of Sex Development 		6 0 3 0.12 0 0
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		34 0 6 0.12 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 5 0.12 0 0
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		7 0 3 0.12 0 0
CUI: C0036769
Disease: Sertoli Cell Tumor
Sertoli Cell Tumor 		9 0 3 0.11 0 0
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		39 0 6 0.11 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 13 0.11 0 0
CUI: C0432475
Disease: XX males
XX males 		32 0 5 0.10 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		121 0 13 0.10 0 0