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: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		6 0 6 0.75 0 0
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		12 30 8 0.67 1 1.4E-02
CUI: C1720275
Disease: Gonadotropin releasing factor deficiency
Gonadotropin releasing factor deficiency 		5 0 4 0.44 0 0
CUI: C4022675
Disease: Increased female libido
Increased female libido 		18 0 7 0.37 0 0
CUI: C4025901
Disease: Abnormality of body height
Abnormality of body height 		18 0 7 0.37 0 0
CUI: C4025569
Disease: Eunuchoid habitus
Eunuchoid habitus 		21 0 7 0.32 0 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		24 0 7 0.28 0 0
CUI: C0271578
Disease: Female hypogonadism syndrome
Female hypogonadism syndrome 		25 0 7 0.27 0 0
CUI: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		22 0 6 0.25 0 0
CUI: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		24 0 6 0.23 0 0
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		23 0 5 0.19 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 7 0.18 0 0
CUI: C0234362
Disease: Synkinesis
Synkinesis 		13 0 3 0.17 0 0
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		35 0 6 0.16 0 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		43 0 7 0.16 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 7 0.16 0 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		44 0 7 0.16 0 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		44 0 7 0.16 0 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		37 0 6 0.15 0 0
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		39 0 6 0.15 0 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		47 0 7 0.15 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		40 4 6 0.14 1 2.1E-02
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 2 0.14 5 6.6E-02
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		8 0 2 0.14 0 0
CUI: C4551492
Disease: Micropenis
Micropenis 		32 0 5 0.14 0 0