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: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		13 0 7 0.44 0 0
CUI: C0266275
Disease: Ectopic adrenal gland
Ectopic adrenal gland 		3 0 3 0.30 0 0
CUI: C4022554
Disease: Hyperpigmented genitalia
Hyperpigmented genitalia 		3 0 3 0.30 0 0
CUI: C4022695
Disease: Abnormality of the labia majora
Abnormality of the labia majora 		4 0 3 0.27 0 0
CUI: C4021124
Disease: Adrenocorticotropic hormone excess
Adrenocorticotropic hormone excess 		5 0 3 0.25 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 5 0.22 0 0
CUI: C4024735
Disease: Maternal virilization in pregnancy
Maternal virilization in pregnancy 		2 0 2 0.20 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 4 0.19 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 5 0.18 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 4 0.17 0 0
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		17 0 4 0.17 0 0
CUI: C4024641
Disease: Enlarged polycystic ovaries
Enlarged polycystic ovaries 		18 0 4 0.17 0 0
CUI: C4025888
Disease: Abnormality of the menstrual cycle
Abnormality of the menstrual cycle 		11 0 3 0.17 0 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		12 0 3 0.16 0 0
CUI: C1837532
Disease: Fused labia minora
Fused labia minora 		5 0 2 0.15 0 0
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		5 0 2 0.15 0 0
CUI: C0032796
Disease: Postpartum Amenorrhea
Postpartum Amenorrhea 		6 0 2 0.14 0 0
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		6 0 2 0.14 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 0.14 0 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		7 0 2 0.13 0 0
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome 		16 0 3 0.13 0 0
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		8 0 2 0.12 0 0
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase 		8 0 2 0.12 0 0
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		18 0 3 0.12 0 0
CUI: C0036769
Disease: Sertoli Cell Tumor
Sertoli Cell Tumor 		9 0 2 0.12 0 0