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: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 11 0.48 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 11 0.48 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 3 12 0.40 1 1.2E-02
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 12 0.36 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 13 0.34 8 5.1E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 10 0.27 3 3.4E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 33 7 0.26 12 0.12
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 8 0.26 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 27 14 0.25 12 0.12
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 12 7 0.24 10 0.12
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 8 0.22 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 24 13 0.22 1 9.4E-03
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 26 5 0.21 22 0.25
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 10 0.20 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 8 0.20 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 8 0.20 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 5 0.19 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 8 0.18 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		23 8 7 0.18 2 2.2E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 16 0.17 59 0.28
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 8 0.17 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 5 0.17 0 0
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		5 6 4 0.17 1 1.1E-02
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 4 0.17 0 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		5 3 4 0.17 1 1.2E-02