Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Telangiectasia, Hereditary Hemorrhagic, Type 1
8 32 8 0.19 12 0.12
Familial primary pulmonary hypertension
30 0 11 0.18 0 0
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
47 0 13 0.17 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 8 0.17 0 0
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2
6 0 6 0.14 0 0
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder)
32 0 9 0.14 0 0
Arteriovenous Malformations, Cerebral
35 0 9 0.13 0 0
CUI: C0472390
Disease: High altitude cerebral edema
High altitude cerebral edema
10 0 6 0.13 0 0
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum
11 0 6 0.13 0 0
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
48 0 10 0.12 0 0
Familial pulmonary arterial hypertension
12 0 6 0.12 0 0
CUI: C0238348
Disease: Squamous cell carcinoma of penis
Squamous cell carcinoma of penis
40 0 9 0.12 0 0
CUI: C0334246
Disease: Squamous cell carcinoma, metastatic
Squamous cell carcinoma, metastatic
13 0 6 0.12 0 0
Headache associated with sexual activity
14 0 6 0.12 0 0
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness
24 0 7 0.12 0 0
CUI: C1306557
Disease: Chronic venous insufficiency
Chronic venous insufficiency
25 0 7 0.12 0 0
CUI: C4745063
Disease: Biliary Tract Carcinoma
Biliary Tract Carcinoma
25 0 7 0.12 0 0
Congenital arteriovenous malformation
163 0 21 0.11 0 0
CUI: C0813148
Disease: Metastatic Endometrial Carcinoma
Metastatic Endometrial Carcinoma
7 0 5 0.11 0 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome
7 0 5 0.11 0 0
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma
76 0 12 0.11 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
17 0 6 0.11 0 0
Mesangial proliferative glomerulonephritis
37 0 8 0.11 0 0
CUI: C0032109
Disease: Plasma cell mastitis
Plasma cell mastitis
8 0 5 0.11 0 0
Megalencephaly cutis marmorata telangiectatica congenita
18 0 6 0.11 0 0