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: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		9 3 7 0.22 1 0.25
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		17 0 7 0.17 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 6 0.15 0 0
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		8 0 5 0.15 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 6 0.15 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 6 0.14 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 7 0.13 0 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		13 0 5 0.13 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 6 0.13 0 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 6 0.13 0 0
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		50 0 9 0.13 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 4 0.12 0 0
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		7 0 4 0.12 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 15 0.12 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 6 0.12 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 6 0.12 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 6 0.12 0 0
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		39 0 7 0.11 0 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		39 0 7 0.11 0 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		51 0 8 0.11 0 0
CUI: C0221182
Disease: Chordee
Chordee 		11 0 4 0.11 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 4 0.11 0 0
CUI: C4551492
Disease: Micropenis
Micropenis 		32 21 6 0.11 1 4.5E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		127 83 15 0.11 1 1.2E-02
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 4 0.11 0 0