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: C4703595
Disease: Increased proinsulin:insulin ratio
Increased proinsulin:insulin ratio 		2 0 2 0.33 0 0
CUI: C2931803
Disease: Deletion 11p13
Deletion 11p13 		3 0 2 0.29 0 0
CUI: C0036769
Disease: Sertoli Cell Tumor
Sertoli Cell Tumor 		9 0 3 0.25 0 0
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		4 87 2 0.25 1 9.7E-03
CUI: C1832671
Disease: Dysfunction of lateral corticospinal tracts
Dysfunction of lateral corticospinal tracts 		4 0 2 0.25 0 0
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		4 0 2 0.25 0 0
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		10 0 3 0.23 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 2 0.22 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 3 0.21 0 0
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: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 3 0.20 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 0.20 0 0
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
Ovotesticular Differences of Sex Development 		6 0 2 0.20 0 0
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		13 11 3 0.19 9 0.47
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		13 0 3 0.19 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 3 0.19 0 0
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		7 0 2 0.18 0 0
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		7 0 2 0.18 0 0
CUI: C0266371
Disease: Streak ovary
Streak ovary 		21 0 4 0.17 0 0
CUI: C0043379
Disease: XYY Karyotype
XYY Karyotype 		1 0 1 0.17 0 0
CUI: C0152112
Disease: Foster-Kennedy Syndrome
Foster-Kennedy Syndrome 		1 0 1 0.17 0 0
CUI: C0432361
Disease: Diffuse neurofibroma
Diffuse neurofibroma 		1 0 1 0.17 0 0
CUI: C0563632
Disease: Manifest-latent nystagmus
Manifest-latent nystagmus 		1 0 1 0.17 0 0
CUI: C0751402
Disease: Optic Disk Disorders
Optic Disk Disorders 		1 0 1 0.17 0 0