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: C1863411
Disease: Retinal hamartoma
Retinal hamartoma 		4 0 4 0.40 0 0
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		4 56 3 0.27 1 1.7E-02
CUI: C1859896
Disease: Progressive macrocephaly
Progressive macrocephaly 		5 0 3 0.25 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 9 4 0.24 1 8.3E-02
CUI: C0037293
Disease: Skin tag
Skin tag 		17 0 5 0.23 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 5 0.23 0 0
CUI: C0269011
Disease: Increased size of penis
Increased size of penis 		12 0 4 0.22 0 0
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		20 0 5 0.20 0 0
CUI: C0432363
Disease: Shagreen patch
Shagreen patch 		8 0 3 0.20 0 0
CUI: C0442880
Disease: Periungual fibroma
Periungual fibroma 		2 0 2 0.20 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 4 0.20 0 0
CUI: C1860715
Disease: Giant cell astrocytoma
Giant cell astrocytoma 		2 0 2 0.20 0 0
CUI: C4025548
Disease: Cortical diaphyseal thickening of the upper limbs
Cortical diaphyseal thickening of the upper limbs 		2 0 2 0.20 0 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		8 0 3 0.20 0 0
CUI: C0040046
Disease: Thrombophlebitis
Thrombophlebitis 		3 0 2 0.18 0 0
CUI: C0238034
Disease: Intraductal papilloma of breast
Intraductal papilloma of breast 		3 0 2 0.18 0 0
CUI: C0238399
Disease: Pulmonary lymphangiomyomatosis
Pulmonary lymphangiomyomatosis 		3 0 2 0.18 0 0
CUI: C0266003
Disease: Subungual fibroma
Subungual fibroma 		3 0 2 0.18 0 0
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 56 2 0.18 1 1.7E-02
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 56 2 0.18 1 1.7E-02
CUI: C1846386
Disease: Focal Cortical Dysplasia of Taylor, Type IIa
Focal Cortical Dysplasia of Taylor, Type IIa 		3 0 2 0.18 0 0
CUI: C1846389
Disease: Focal Cortical Dysplasia of Taylor, Type IIb
Focal Cortical Dysplasia of Taylor, Type IIb 		3 0 2 0.18 0 0
CUI: C1860710
Disease: Achromatic retinal patches
Achromatic retinal patches 		3 0 2 0.18 0 0
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 56 2 0.18 1 1.7E-02
CUI: C1968958
Disease: Subependymal nodules
Subependymal nodules 		3 0 2 0.18 0 0