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: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		7 3 6 0.86 2 0.67
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		4 0 3 0.43 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 3 0.38 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 1 3 0.33 1 0.50
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		3 0 2 0.29 0 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		13 0 4 0.27 0 0
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		4 0 2 0.25 0 0
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		19 0 5 0.25 0 0
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		16 1 4 0.22 1 0.50
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 3 0.21 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 1 3 0.21 1 0.50
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 3 0.21 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 3 0.21 0 0
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		17 0 4 0.21 0 0
CUI: C0018050
Disease: Gonadal Disorders
Gonadal Disorders 		6 0 2 0.20 0 0
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		6 0 2 0.20 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 3 0.20 0 0
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		12 0 3 0.20 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 3 0.19 0 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		14 0 3 0.18 0 0
CUI: C0023869
Disease: Lithiasis
Lithiasis 		1 0 1 0.17 0 0
CUI: C0043379
Disease: XYY Karyotype
XYY Karyotype 		1 0 1 0.17 0 0
CUI: C0432361
Disease: Diffuse neurofibroma
Diffuse neurofibroma 		1 0 1 0.17 0 0
CUI: C1336719
Disease: Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified
Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified 		1 0 1 0.17 0 0
CUI: C1861937
Disease: Anterior tibial bowing
Anterior tibial bowing 		1 0 1 0.17 0 0