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: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 10 0.30 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 8 0.30 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 8 0.30 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 10 0.28 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 10 0.27 3 3.4E-02
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 8 0.25 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 10 0.24 4 4.7E-02
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 8 0.22 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 0 6 0.21 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 8 0.20 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 12 6 0.19 1 5.6E-02
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 8 0.19 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 27 11 0.18 1 3.0E-02
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 5 0.18 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 0.17 1 7.1E-02
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 3 9 0.17 1 0.11
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: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 0 7 0.16 0 0
CUI: C0343073
Disease: Wooly hair
Wooly hair 		19 0 6 0.16 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 5 0.16 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 4 0.16 0 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		5 3 4 0.16 1 0.11
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 10 0.16 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 9 0.16 0 0