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: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 9 8 0.40 1 5.0E-03
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		9 2 7 0.37 2 1.0E-02
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		7 0 6 0.33 0 0
CUI: C1332912
Disease: Cervical Clear Cell Adenocarcinoma
Cervical Clear Cell Adenocarcinoma 		5 0 5 0.29 0 0
CUI: C1335367
Disease: Parotid Gland Squamous Cell Carcinoma
Parotid Gland Squamous Cell Carcinoma 		5 0 5 0.29 0 0
CUI: C1610069
Disease: Circulatory depression
Circulatory depression 		5 0 5 0.29 0 0
CUI: C4727392
Disease: Recurrent Salivary Duct Carcinoma
Recurrent Salivary Duct Carcinoma 		5 0 5 0.29 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 7 0.29 0 0
CUI: C0334102
Disease: Lymphangiomatosis
Lymphangiomatosis 		10 0 6 0.29 0 0
CUI: C0334348
Disease: Hidradenoma Papilliferum
Hidradenoma Papilliferum 		10 5 6 0.29 1 5.1E-03
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		10 0 6 0.29 0 0
CUI: C0278802
Disease: Recurrent Endometrial Cancer
Recurrent Endometrial Cancer 		24 0 9 0.28 0 0
CUI: C1333394
Disease: Endometrial intraepithelial neoplasia
Endometrial intraepithelial neoplasia 		15 0 7 0.28 0 0
CUI: C4055466
Disease: Soft Tissue Angiosarcoma
Soft Tissue Angiosarcoma 		6 0 5 0.28 0 0
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		6 0 5 0.28 0 0
CUI: C0813148
Disease: Metastatic Endometrial Carcinoma
Metastatic Endometrial Carcinoma 		7 0 5 0.26 0 0
CUI: C0334595
Disease: Ganglioneuromatosis
Ganglioneuromatosis 		12 0 6 0.26 0 0
CUI: C0744619
Disease: Head and neck cancer metastatic
Head and neck cancer metastatic 		12 0 6 0.26 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 7 0.26 0 0
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		22 0 8 0.26 0 0
CUI: C1266146
Disease: Adenomyoepithelioma
Adenomyoepithelioma 		8 0 5 0.25 0 0
CUI: C4728035
Disease: CTLA4 deficiency
CTLA4 deficiency 		8 0 5 0.25 0 0
CUI: C0347180
Disease: Penile intraepithelial neoplasia
Penile intraepithelial neoplasia 		9 0 5 0.24 0 0
CUI: C2609289
Disease: Diabetic arteriosclerosis
Diabetic arteriosclerosis 		9 0 5 0.24 0 0
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		4 56 4 0.24 56 0.29