ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4225631
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA 1
HEREDITARY HEMORRHAGIC TELANGIECTASIA 1 		disease Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C1848795
Disease: GRAVES DISEASE, SUSCEPTIBILITY TO, 1
GRAVES DISEASE, SUSCEPTIBILITY TO, 1 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1857692
Disease: Venous varicosities of celiac and mesenteric vessels
Venous varicosities of celiac and mesenteric vessels 		phenotype Cardiovascular Diseases Finding 1 0.100 None 0
CUI: C4025877
Disease: Oral cavity telangiectasia
Oral cavity telangiectasia 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4476552
Disease: Dilatation of mesenteric artery
Dilatation of mesenteric artery 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4477059
Disease: Dilatation of celiac artery
Dilatation of celiac artery 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 2 32 0.100 None 1.000 5 5 2003 2013
CUI: C0348023
Disease: Spinal arteriovenous malformation
Spinal arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.100 None 0
CUI: C0520557
Disease: Arteriovenous malformation of liver
Arteriovenous malformation of liver 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.100 None 0
CUI: C1619711
Disease: Gastrointestinal telangiectasia
Gastrointestinal telangiectasia 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1838167
Disease: Nail bed telangiectasia
Nail bed telangiectasia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 2 0.100 None 0
CUI: C1857693
Disease: Arteriovenous fistulas of celiac and mesenteric vessels
Arteriovenous fistulas of celiac and mesenteric vessels 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 2 0.100 None 0
CUI: C1857699
Disease: Palate telangiectasia
Palate telangiectasia 		phenotype Finding 2 1 0.100 None 0 1
CUI: C1861248
Disease: Fingerpad telangiectases
Fingerpad telangiectases 		phenotype Finding 2 0.100 None 0
CUI: C4025853
Disease: Nasal mucosa telangiectasia
Nasal mucosa telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025878
Disease: Tongue telangiectasia
Tongue telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 3 0.500 limited 1.000 5 2005 2016
CUI: C1562503
Disease: Vein of Galen Malformations
Vein of Galen Malformations 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C0428871
Disease: Right to left cardiovascular shunt (finding)
Right to left cardiovascular shunt (finding) 		phenotype Finding 3 0.100 None 0
CUI: C0742747
Disease: High-output congestive heart failure
High-output congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0744321
Disease: Gastrointestinal arteriovenous malformation
Gastrointestinal arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C0241790
Disease: Congenital pulmonary arteriovenous malformation
Congenital pulmonary arteriovenous malformation 		disease Respiratory Tract Diseases Congenital Abnormality 4 0.100 None 0
CUI: C0854242
Disease: Gastrointestinal angiodysplasia
Gastrointestinal angiodysplasia 		disease Disease or Syndrome 4 0.100 None 0
CUI: C1857690
Disease: Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia 		phenotype Finding 4 0.100 None 0