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: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 7 391 1.000 definitive 1.000 85 390 1980 2019
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 77 14 0.400 None 1.000 30 1986 2020
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.600 definitive 1.000 10 4 1988 2015
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.080 None 0.875 8 2006 2020
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.310 None 1.000 6 1 1989 2008
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.300 None 1.000 5 1989 2006
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 119 49 0.050 None 0.600 5 1 2009 2020
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.040 None 0.750 4 1 1993 2019
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.040 None 1.000 4 1990 2008
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 20 35 0.410 strong 1.000 3 1 1990 2016
CUI: C0238590
Disease: Acrogeria
Acrogeria 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.320 None 1.000 3 1996 2004
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.320 None 1.000 3 2013 2018
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.310 None 1.000 3 1 1990 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.220 None 1.000 3 2001 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.210 None 1.000 3 1987 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.030 None 1.000 3 2016 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.030 None 1.000 3 1 2003 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.030 None 1.000 3 2016 2018
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.030 None 1.000 3 1987 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.410 None 1.000 2 2001 2017
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.310 None 1.000 2 2008 2010
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.310 None 1.000 2 2001 2008
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.310 strong 1.000 2 3 1995 2014
CUI: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.310 None 1.000 2 2010 2017
CUI: C1853365
Disease: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 		disease Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 2 1990 1999