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 0 8 0.32 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 8 0.29 0 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		7 0 6 0.26 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 8 0.26 0 0
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		18 18 8 0.25 1 5.0E-02
CUI: C0334102
Disease: Lymphangiomatosis
Lymphangiomatosis 		10 0 6 0.23 0 0
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		10 0 6 0.23 0 0
CUI: C1332912
Disease: Cervical Clear Cell Adenocarcinoma
Cervical Clear Cell Adenocarcinoma 		5 0 5 0.23 0 0
CUI: C1335367
Disease: Parotid Gland Squamous Cell Carcinoma
Parotid Gland Squamous Cell Carcinoma 		5 0 5 0.23 0 0
CUI: C1610069
Disease: Circulatory depression
Circulatory depression 		5 0 5 0.23 0 0
CUI: C4727392
Disease: Recurrent Salivary Duct Carcinoma
Recurrent Salivary Duct Carcinoma 		5 0 5 0.23 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 7 0.22 0 0
CUI: C4055466
Disease: Soft Tissue Angiosarcoma
Soft Tissue Angiosarcoma 		6 0 5 0.22 0 0
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		6 0 5 0.22 0 0
CUI: C0334595
Disease: Ganglioneuromatosis
Ganglioneuromatosis 		12 0 6 0.21 0 0
CUI: C1266146
Disease: Adenomyoepithelioma
Adenomyoepithelioma 		8 0 5 0.20 0 0
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		14 0 6 0.20 0 0
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		39 0 10 0.20 0 0
CUI: C1333394
Disease: Endometrial intraepithelial neoplasia
Endometrial intraepithelial neoplasia 		15 0 6 0.19 0 0
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		9 0 5 0.19 0 0
CUI: C0347180
Disease: Penile intraepithelial neoplasia
Penile intraepithelial neoplasia 		9 0 5 0.19 0 0
CUI: C2609289
Disease: Diabetic arteriosclerosis
Diabetic arteriosclerosis 		9 0 5 0.19 0 0
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		22 0 7 0.19 0 0
CUI: C0023801
Disease: Lipomatosis
Lipomatosis 		16 0 6 0.19 0 0
CUI: C0334348
Disease: Hidradenoma Papilliferum
Hidradenoma Papilliferum 		10 0 5 0.19 0 0