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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.030 None 1.000 3 2005 2008
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.030 None 1.000 3 1989 2015
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.210 None 1.000 3 2009 2019
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		disease Neoplasms Neoplastic Process 387 9 0.030 None 0.667 3 1999 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.030 None 1.000 3 2014 2018
CUI: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.320 None 1.000 3 1993 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.030 None 1.000 3 2016 2019
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		disease Neoplasms Neoplastic Process 413 14 0.030 None 1.000 3 2007 2018
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.020 None 1.000 2 2018 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2019 2020
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.020 None 1.000 2 2011 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.120 None 1.000 2 2016 2018
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
Nonspecific interstitial pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 28 1 0.020 None 1.000 2 2014 2019
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal 		disease Neoplasms; Musculoskeletal Diseases Disease or Syndrome 79 5 0.020 None 1.000 2 2008 2015
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.020 None 1.000 2 2017 2018
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.020 None 1.000 2 2007 2012
CUI: C0085179
Disease: Eosinophilia-Myalgia Syndrome
Eosinophilia-Myalgia Syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 10 0.020 None 1.000 2 1993 1997
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Congenital Abnormality 6 3 0.020 None 1.000 2 1997 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.020 None 1.000 2 2017 2018
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.310 None 1.000 2 1991 1997
CUI: C0278601
Disease: Inflammatory Breast Carcinoma
Inflammatory Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 0.020 None 1.000 2 2016 2017
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.310 None 1.000 2 1992 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.020 None 1.000 2 2017 2018
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.020 None 0.500 2 2019 2019
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.120 None 1.000 2 2007 2009