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: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 34 0.24 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 22 0.16 0 0
CUI: C2938983
Disease: Focal cortical dysplasia
Focal cortical dysplasia 		44 0 14 0.16 0 0
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		39 0 13 0.15 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 9 0.14 0 0
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		100 0 18 0.13 0 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		40 0 11 0.12 0 0
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		14 0 8 0.12 0 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 0 14 0.12 0 0
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		91 0 16 0.12 0 0
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		28 0 9 0.11 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 19 0.11 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 9 7 0.11 1 7.7E-02
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		22 0 8 0.11 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 25 0.11 0 0
CUI: C1333394
Disease: Endometrial intraepithelial neoplasia
Endometrial intraepithelial neoplasia 		15 0 7 0.10 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 1 7 1.0E-01 1 0.20
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 7 1.0E-01 0 0
CUI: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma 		17 0 7 1.0E-01 0 0
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		18 0 7 9.9E-02 0 0
CUI: C1266146
Disease: Adenomyoepithelioma
Adenomyoepithelioma 		8 0 6 9.7E-02 0 0
CUI: C0347180
Disease: Penile intraepithelial neoplasia
Penile intraepithelial neoplasia 		9 0 6 9.5E-02 0 0
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		32 0 8 9.5E-02 0 0
CUI: C0334348
Disease: Hidradenoma Papilliferum
Hidradenoma Papilliferum 		10 5 6 9.4E-02 1 0.11
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		22 0 7 9.3E-02 0 0