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 7 0.47 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 7 0.47 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 4 8 0.32 1 2.8E-02
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 7 0.30 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 82 9 0.30 5 4.5E-02
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 12 5 0.26 3 7.1E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 7 0.26 12 0.12
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 4 0.25 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 3 0.23 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 5 0.23 0 0
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		6 0 3 0.21 0 0
CUI: C1266045
Disease: Metanephric adenoma
Metanephric adenoma 		6 0 3 0.21 0 0
CUI: C1531553
Disease: Dendritic cell neoplasm
Dendritic cell neoplasm 		6 0 3 0.21 0 0
CUI: C1834120
Disease: NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) 		6 2 3 0.21 1 2.9E-02
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 26 3 0.21 12 0.26
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 4 0.21 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 27 10 0.21 4 7.1E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 6 0.21 0 0
CUI: C0005866
Disease: Bluetongue infection
Bluetongue infection 		13 0 4 0.20 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 5 0.19 0 0
CUI: C0334350
Disease: Eccrine papillary adenoma
Eccrine papillary adenoma 		2 0 2 0.18 0 0
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve 		2 0 2 0.18 0 0
CUI: C0346023
Disease: Syringocystadenoma
Syringocystadenoma 		2 0 2 0.18 0 0
CUI: C0431097
Disease: Malignant melanoma - category
Malignant melanoma - category 		2 0 2 0.18 0 0
CUI: C0432562
Disease: Malignant lymphoma of spleen
Malignant lymphoma of spleen 		2 0 2 0.18 0 0