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: C1848795
Disease: GRAVES DISEASE, SUSCEPTIBILITY TO, 1
GRAVES DISEASE, SUSCEPTIBILITY TO, 1 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0 1
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0
CUI: C0025222
Disease: Melena
Melena 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 15 1 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0 1
CUI: C1838167
Disease: Nail bed telangiectasia
Nail bed telangiectasia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 2 0.100 None 0
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 22 1 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0 1
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0 1
CUI: C4025877
Disease: Oral cavity telangiectasia
Oral cavity telangiectasia 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0 1
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.100 None 0
CUI: C0007772
Disease: Intracranial Arteriovenous Malformation
Intracranial Arteriovenous Malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 11 0.200 None 0
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.100 None 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1
CUI: C0008031
Disease: Chest Pain
Chest Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0 1
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.100 None 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		phenotype Cardiovascular Diseases Finding 56 3 0.100 None 0 2
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 7 7 0.100 None 0 1
CUI: C4022868
Disease: Abnormal circle of Willis morphology
Abnormal circle of Willis morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4025853
Disease: Nasal mucosa telangiectasia
Nasal mucosa telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0 1