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: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		39 0 15 0.22 0 0
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		104 0 24 0.19 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 8 0.16 0 0
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		60 0 14 0.16 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 8 0.15 0 0
CUI: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		17 0 8 0.15 0 0
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		18 0 8 0.15 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 0 7 0.15 0 0
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		28 0 9 0.14 0 0
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		22 0 8 0.14 0 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		73 0 14 0.14 0 0
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		32 0 9 0.13 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 7 0.13 0 0
CUI: C0334348
Disease: Hidradenoma Papilliferum
Hidradenoma Papilliferum 		10 0 6 0.12 0 0
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		10 0 6 0.12 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 10 0.12 0 0
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		22 0 7 0.12 0 0
CUI: C1832033
Disease: Adult Subependymal Giant Cell Astrocytoma
Adult Subependymal Giant Cell Astrocytoma 		14 0 6 0.12 0 0
CUI: C1832034
Disease: Childhood Subependymal Giant Cell Astrocytoma
Childhood Subependymal Giant Cell Astrocytoma 		14 0 6 0.12 0 0
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		14 0 6 0.12 0 0
CUI: C1332912
Disease: Cervical Clear Cell Adenocarcinoma
Cervical Clear Cell Adenocarcinoma 		5 0 5 0.11 0 0
CUI: C1333394
Disease: Endometrial intraepithelial neoplasia
Endometrial intraepithelial neoplasia 		15 0 6 0.11 0 0
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		25 0 7 0.11 0 0
CUI: C0021818
Disease: Intervertebral Disk Displacement
Intervertebral Disk Displacement 		35 0 8 0.11 0 0
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		6 0 5 0.11 0 0