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: C0042344
Disease: Varicose Ulcer
Varicose Ulcer 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2017 2017
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.010 None 1.000 1 2018 2018
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2019 2019
CUI: C0752156
Disease: Dural Arteriovenous Fistula
Dural Arteriovenous Fistula 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 17 2 0.010 None 1.000 1 2006 2006
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2006 2006
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 115 39 0.010 None 1.000 1 2018 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 165 36 0.010 None 1.000 1 2017 2017
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 2008 2008
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2005 2005
CUI: C0034091
Disease: Pulmonary Veno-Occlusive Disease (disorder)
Pulmonary Veno-Occlusive Disease (disorder) 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2016 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2018 2018
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 116 3 0.010 None 1.000 1 2009 2009
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2013 2013
CUI: C0040053
Disease: Thrombosis
Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 98 0.010 None 1.000 1 2009 2009
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79 0.010 None 1.000 1 2019 2019
CUI: C0585362
Disease: Squamous cell carcinoma of mouth
Squamous cell carcinoma of mouth 		disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 123 1 0.010 None 1.000 1 2018 2018
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2017 2017
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		group Pathological Conditions, Signs and Symptoms Sign or Symptom 73 10 0.010 None 1.000 1 2007 2007
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2017 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2013 2013
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 186 43 0.010 None 1.000 1 2018 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2018 2018
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2008 2008
CUI: C0796466
Disease: Refractory cytopenia with multilineage dysplasia
Refractory cytopenia with multilineage dysplasia 		disease Hemic and Lymphatic Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2013 2013
CUI: C0023891
Disease: Liver Cirrhosis, Alcoholic
Liver Cirrhosis, Alcoholic 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 126 15 0.010 None < 0.001 1 2017 2017