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: C1619692
Disease: Nephrogenic Fibrosing Dermopathy
Nephrogenic Fibrosing Dermopathy 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 13 0.300 None 1.000 1 2010 2010
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		group Cardiovascular Diseases Disease or Syndrome 79 5 0.300 None 1.000 1 2011 2011
CUI: C0016059
Disease: Fibrosis
Fibrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 184 0.300 None 1.000 1 2010 2010
CUI: C0008311
Disease: Cholangitis
Cholangitis 		disease Digestive System Diseases Disease or Syndrome 80 1 0.300 None 1.000 1 2014 2014
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 109 0.300 None 1.000 1 2008 2008
CUI: C0006663
Disease: Calcinosis
Calcinosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.300 None 1.000 1 2011 2011
CUI: C0521174
Disease: Microcalcification
Microcalcification 		phenotype Nutritional and Metabolic Diseases Pathologic Function 42 0.300 None 1.000 1 2011 2011
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic 		disease Digestive System Diseases Disease or Syndrome 87 0.300 None 1.000 1 2017 2017
CUI: C0220679
Disease: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 1 2000 2000
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.300 None 1.000 1 2011 2011
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.300 None 1.000 1 2001 2001
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.300 None 1.000 1 2008 2008
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.300 strong 1.000 1 2015 2015
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.300 None 1.000 1 1996 1996
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.300 None 1.000 1 2011 2011
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel 		phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 1 1996 1996
CUI: C4552766
Disease: Miscarriage
Miscarriage 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.300 None 1.000 1 2008 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 None 1.000 1 2008 2008
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.300 None 1.000 1 2014 2014
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 strong 0
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 89 0.300 None 0
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 73 3 0.300 None 0
CUI: C0029118
Disease: Opportunistic Infections
Opportunistic Infections 		group Infections Disease or Syndrome 90 7 0.300 None 0
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 61 0.300 None 0
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.250 None 1.000 6 1994 2019