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: C1849265
Disease: Overgrowth
Overgrowth 		103 93 19 0.16 1 1.0E-02
CUI: C4021539
Disease: Posterior helix pit
Posterior helix pit 		9 0 6 0.15 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 7 0.15 0 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		64 0 13 0.15 0 0
CUI: C1335367
Disease: Parotid Gland Squamous Cell Carcinoma
Parotid Gland Squamous Cell Carcinoma 		5 0 5 0.14 0 0
CUI: C1610069
Disease: Circulatory depression
Circulatory depression 		5 0 5 0.14 0 0
CUI: C4727392
Disease: Recurrent Salivary Duct Carcinoma
Recurrent Salivary Duct Carcinoma 		5 0 5 0.14 0 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		22 0 7 0.14 0 0
CUI: C4055466
Disease: Soft Tissue Angiosarcoma
Soft Tissue Angiosarcoma 		6 0 5 0.14 0 0
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		6 2 5 0.14 2 0.33
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		23 0 7 0.13 0 0
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		32 0 8 0.13 0 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		7 0 5 0.13 0 0
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		9 0 5 0.12 0 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		27 0 7 0.12 0 0
CUI: C0334102
Disease: Lymphangiomatosis
Lymphangiomatosis 		10 0 5 0.12 0 0
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		10 0 5 0.12 0 0
CUI: C4086159
Disease: Childhood Gastrointestinal Stromal Tumor
Childhood Gastrointestinal Stromal Tumor 		11 0 5 0.12 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 9 5 0.12 1 7.1E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		79 0 12 0.12 0 0
CUI: C0334595
Disease: Ganglioneuromatosis
Ganglioneuromatosis 		12 0 5 0.12 0 0
CUI: C0751560
Disease: Malignant neoplasm tonsil
Malignant neoplasm tonsil 		22 0 6 0.12 0 0
CUI: C0558355
Disease: Tonsillar Carcinoma
Tonsillar Carcinoma 		23 0 6 0.11 0 0
CUI: C4544791
Disease: PIK3CA related overgrowth syndrome
PIK3CA related overgrowth syndrome 		4 0 4 0.11 0 0
CUI: C4721661
Disease: Stage IV Lung Squamous Cell Carcinoma AJCC v7
Stage IV Lung Squamous Cell Carcinoma AJCC v7 		4 0 4 0.11 0 0