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 5 0.42 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 5 0.42 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 3 0.38 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 3 0.38 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 3 0.38 0 0
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve 		2 0 2 0.33 0 0
CUI: C0700199
Disease: Multiple nevi
Multiple nevi 		2 1 2 0.33 1 3.8E-02
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		7 0 3 0.30 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 12 4 0.27 7 0.23
CUI: C0006281
Disease: Congenital bronchogenic cyst
Congenital bronchogenic cyst 		4 0 2 0.25 0 0
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		9 0 3 0.25 0 0
CUI: C0334230
Disease: Malignant tumor, fusiform cell type
Malignant tumor, fusiform cell type 		4 0 2 0.25 0 0
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma 		5 0 2 0.22 0 0
CUI: C1511104
Disease: Benign Struma Ovarii
Benign Struma Ovarii 		5 0 2 0.22 0 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		5 0 2 0.22 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 33 3 0.21 12 0.26
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 83 5 0.21 22 0.25
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block 		12 0 3 0.20 0 0
CUI: C1834124
Disease: Shield chest
Shield chest 		12 0 3 0.20 0 0
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		6 0 2 0.20 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 5 0.19 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 4 0.19 0 0
CUI: C0009075
Disease: Melanoma, Cloudman S91
Melanoma, Cloudman S91 		7 0 2 0.18 0 0
CUI: C0018598
Disease: Melanoma, Harding-Passey
Melanoma, Harding-Passey 		7 0 2 0.18 0 0
CUI: C0744333
Disease: Gastrointestinal polyps
Gastrointestinal polyps 		7 0 2 0.18 0 0