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: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		52 5 44 0.45 5 0.50
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 29 0.15 0 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		17 0 13 0.14 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 13 0.14 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 13 0.14 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 16 0.14 0 0
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome 		12 0 12 0.13 0 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		21 0 13 0.13 0 0
CUI: C1386091
Disease: Acromicria
Acromicria 		13 0 12 0.13 0 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		23 0 13 0.13 0 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		23 0 13 0.13 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 12 0.13 0 0
CUI: C1857632
Disease: Narrow palm
Narrow palm 		17 0 12 0.13 0 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		26 0 13 0.13 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 32 0.13 0 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		37 0 14 0.12 0 0
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		11 0 11 0.12 0 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		11 0 11 0.12 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 11 0.12 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 16 0.12 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		21 0 12 0.12 0 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		21 0 12 0.12 0 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		12 0 11 0.12 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 0 12 0.12 0 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		13 0 11 0.12 0 0