Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Ovotesticular Differences of Sex Development
6 2 4 0.22 1 0.50
Ovotesticular Disorders of Sex Development
7 3 4 0.21 1 0.33
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation
4 0 3 0.18 0 0
Abnormality of male internal genitalia
5 0 3 0.17 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum
13 0 4 0.16 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 1 3 0.16 1 1.00
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome
19 0 4 0.13 0 0
CUI: C1112306
Disease: Adenoviral hepatitis
Adenoviral hepatitis
2 0 2 0.12 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma
11 0 3 0.12 0 0
46, XX Testicular Disorders of Sex Development
11 1 3 0.12 1 1.00
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia
11 0 3 0.12 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 3 0.12 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma
12 0 3 0.12 0 0
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes
3 0 2 0.12 0 0
Autoimmune Lymphoproliferative Syndrome, Type IA
3 0 2 0.12 0 0
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome
3 0 2 0.12 0 0
Increased proportion of HLA DR+ T cells
3 0 2 0.12 0 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis
13 0 3 0.12 0 0
Elevated circulating luteinizing hormone level
23 0 4 0.11 0 0
CUI: C0241185
Disease: Smooth muscle antibodies positive
Smooth muscle antibodies positive
4 0 2 0.11 0 0
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis
4 0 2 0.11 0 0
CUI: C1843386
Disease: Reduced delayed hypersensitivity
Reduced delayed hypersensitivity
4 0 2 0.11 0 0
CUI: C1858980
Disease: Platelet antibody positive
Platelet antibody positive
4 0 2 0.11 0 0
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
4 0 2 0.11 0 0
CUI: C4022995
Disease: Sex reversal
Sex reversal
14 0 3 0.11 0 0