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: C1961121
Disease: Congenital vascular anomaly
Congenital vascular anomaly 		42 0 21 0.31 0 0
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		39 7 16 0.23 1 9.1E-02
CUI: C0265950
Disease: Venous malformation
Venous malformation 		38 3 15 0.21 1 0.14
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		25 0 11 0.18 0 0
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		28 0 11 0.17 0 0
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		42 0 13 0.17 0 0
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		25 0 10 0.16 0 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		22 0 9 0.15 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 0 12 0.15 0 0
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		8 0 7 0.15 0 0
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		17 0 8 0.14 0 0
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		163 23 26 0.14 2 7.7E-02
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		10 0 7 0.14 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		11 0 7 0.14 0 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		36 0 10 0.14 0 0
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		112 0 19 0.14 0 0
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		30 0 9 0.13 0 0
CUI: C0238348
Disease: Squamous cell carcinoma of penis
Squamous cell carcinoma of penis 		40 0 10 0.13 0 0
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		14 0 7 0.13 0 0
CUI: C0267370
Disease: Angiodysplasia of colon
Angiodysplasia of colon 		6 0 6 0.13 0 0
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma 		51 0 11 0.13 0 0
CUI: C4288305
Disease: Recurrent Glioblastoma
Recurrent Glioblastoma 		51 0 11 0.13 0 0
CUI: C0085411
Disease: Angiodysplasia
Angiodysplasia 		7 0 6 0.12 0 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		7 0 6 0.12 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		17 0 7 0.12 0 0