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: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		17 0 10 0.26 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 0 7 0.19 0 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		7 0 6 0.18 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 27 7 0.18 4 2.6E-02
CUI: C0267176
Disease: Gastroparesis with diabetes mellitus
Gastroparesis with diabetes mellitus 		21 0 8 0.18 0 0
CUI: C3890429
Disease: Liquid Tumor
Liquid Tumor 		22 0 8 0.17 0 0
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		9 0 6 0.17 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 7 0.17 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 7 0.17 0 0
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		39 0 10 0.16 0 0
CUI: C0563312
Disease: IgM monoclonal gammopathy of uncertain significance
IgM monoclonal gammopathy of uncertain significance 		11 0 6 0.16 0 0
CUI: C1335367
Disease: Parotid Gland Squamous Cell Carcinoma
Parotid Gland Squamous Cell Carcinoma 		5 0 5 0.16 0 0
CUI: C1610069
Disease: Circulatory depression
Circulatory depression 		5 0 5 0.16 0 0
CUI: C4727392
Disease: Recurrent Salivary Duct Carcinoma
Recurrent Salivary Duct Carcinoma 		5 0 5 0.16 0 0
CUI: C4055466
Disease: Soft Tissue Angiosarcoma
Soft Tissue Angiosarcoma 		6 0 5 0.15 0 0
CUI: C1832033
Disease: Adult Subependymal Giant Cell Astrocytoma
Adult Subependymal Giant Cell Astrocytoma 		14 0 6 0.15 0 0
CUI: C1832034
Disease: Childhood Subependymal Giant Cell Astrocytoma
Childhood Subependymal Giant Cell Astrocytoma 		14 0 6 0.15 0 0
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		22 0 7 0.15 0 0
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		22 0 7 0.15 0 0
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		30 0 8 0.15 0 0
CUI: C0862878
Disease: Dedifferentiated chondrosarcoma
Dedifferentiated chondrosarcoma 		15 0 6 0.15 0 0
CUI: C1333394
Disease: Endometrial intraepithelial neoplasia
Endometrial intraepithelial neoplasia 		15 0 6 0.15 0 0
CUI: C0023801
Disease: Lipomatosis
Lipomatosis 		16 0 6 0.14 0 0
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		25 0 7 0.14 0 0
CUI: C0347180
Disease: Penile intraepithelial neoplasia
Penile intraepithelial neoplasia 		9 0 5 0.14 0 0