COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.210 None 1.000 3 2009 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.200 None 0.900 10 1 1998 2018
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.200 None 1.000 2 2011 2012
CUI: C0005694
Disease: Bladder neck obstruction
Bladder neck obstruction 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 67 0.200 None 1.000 1 2013 2013
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.200 None 1.000 1 2016 2016
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 1 2015 2015
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.200 None 1.000 1 2010 2010
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 93 8 0.200 None 1.000 1 2006 2006
CUI: C1333976
Disease: Liver and Intrahepatic Bile Duct Neoplasm
Liver and Intrahepatic Bile Duct Neoplasm 		disease Digestive System Diseases Neoplastic Process 12 0.200 None 1.000 1 2011 2011
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2015 2015
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.200 None 1.000 1 2012 2012
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 1 2007 2007
CUI: C0848548
Disease: hypertensive nephropathy
hypertensive nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 55 8 0.200 None 1.000 1 2008 2008
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.200 None 1.000 1 2007 2007
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.200 None 1.000 1 2010 2010
CUI: C1333419
Disease: Liver and Intrahepatic Bile Duct Epithelial Neoplasm
Liver and Intrahepatic Bile Duct Epithelial Neoplasm 		disease Neoplastic Process 12 0.200 None 1.000 1 2011 2011
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.200 None 1.000 1 2011 2011
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2010 2010
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 1 2007 2007
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.200 None 1.000 1 2015 2015
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		disease Otorhinolaryngologic Diseases Disease or Syndrome 49 11 0.190 None 0.778 9 1 2002 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.160 None 0.833 6 1 2007 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.150 None 0.800 5 1 2007 2018
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.140 None 1.000 4 6 2001 2006
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.130 None 1.000 3 3 2001 2019