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: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 23 0.88 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 16 0.67 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 14 0.58 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 12 0.52 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 13 0.48 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 11 0.48 0 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 11 0.48 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 11 0.48 0 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		21 0 14 0.47 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 13 0.46 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 11 0.44 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 14 0.44 0 0
CUI: C0266371
Disease: Streak ovary
Streak ovary 		21 0 11 0.33 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 16 0.31 0 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		33 0 13 0.30 0 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		42 0 15 0.30 0 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		39 0 14 0.29 0 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		47 0 14 0.25 0 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		13 0 7 0.24 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 10 0.24 0 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		14 0 7 0.23 0 0
CUI: C0266427
Disease: Testicular regression syndrome
Testicular regression syndrome 		37 0 11 0.22 0 0
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		29 0 9 0.21 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		53 0 13 0.21 0 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		13 0 6 0.20 0 0