COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
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: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2012 2012
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2018 2018
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.010 None 1.000 1 2015 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2015 2015
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2003 2003
CUI: C0156349
Disease: Prolapse of female genital organs
Prolapse of female genital organs 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 6 0.010 None 1.000 1 2011 2011
CUI: C0155760
Disease: Rupture of artery
Rupture of artery 		disease Disease or Syndrome 5 0.010 None 1.000 1 2010 2010
CUI: C0679401
Disease: Vascular rupture
Vascular rupture 		disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 1996 1996
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.010 None 1.000 1 2018 2018
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.010 None 1.000 1 2019 2019
CUI: C0578575
Disease: Dissection of proximal aorta
Dissection of proximal aorta 		disease Disease or Syndrome 26 0.010 None 1.000 1 2015 2015
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		disease Neoplasms Neoplastic Process 413 14 0.010 None 1.000 1 2007 2007
CUI: C0221777
Disease: Nontoxic goiter
Nontoxic goiter 		disease Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2010 2010
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2020 2020
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 39 2 0.010 None 1.000 1 2010 2010
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2008 2008
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2017 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2002 2002
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2019 2019
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 415 84 0.010 None 1.000 1 1 2008 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2016 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None < 0.001 1 1991 1991
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2010 2010
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2018 2018