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: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		25 0 13 0.33 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 8 0.24 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 0 7 0.22 0 0
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		18 0 8 0.21 0 0
CUI: C1266146
Disease: Adenomyoepithelioma
Adenomyoepithelioma 		8 0 6 0.20 0 0
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		22 0 8 0.19 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 7 0.18 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 7 0.18 0 0
CUI: C1332912
Disease: Cervical Clear Cell Adenocarcinoma
Cervical Clear Cell Adenocarcinoma 		5 0 5 0.18 0 0
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		6 0 5 0.17 0 0
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		47 0 11 0.17 0 0
CUI: C0393626
Disease: Opsoclonus-Myoclonus Syndrome
Opsoclonus-Myoclonus Syndrome 		14 0 6 0.17 0 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		7 0 5 0.17 0 0
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		22 0 7 0.16 0 0
CUI: C0347180
Disease: Penile intraepithelial neoplasia
Penile intraepithelial neoplasia 		9 0 5 0.16 0 0
CUI: C2609289
Disease: Diabetic arteriosclerosis
Diabetic arteriosclerosis 		9 0 5 0.16 0 0
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		39 0 9 0.16 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 10 0.15 0 0
CUI: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		17 0 6 0.15 0 0
CUI: C0334102
Disease: Lymphangiomatosis
Lymphangiomatosis 		10 0 5 0.15 0 0
CUI: C0334348
Disease: Hidradenoma Papilliferum
Hidradenoma Papilliferum 		10 0 5 0.15 0 0
CUI: C0472390
Disease: High altitude cerebral edema
High altitude cerebral edema 		10 0 5 0.15 0 0
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		10 0 5 0.15 0 0
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		10 0 5 0.15 0 0
CUI: C0004269
Disease: Child attention deficit disorder
Child attention deficit disorder 		26 0 7 0.15 0 0