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: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin
phenotype Anatomical Abnormality 25 0.100 None 0
CUI: C4025744
Disease: Foot acroosteolysis
Foot acroosteolysis
phenotype Pathologic Function 6 0.100 None 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine
phenotype Finding 19 0.100 None 0
EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge
phenotype Finding 47 2 0.100 None 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.040 None 1.000 4 1990 2008
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: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
disease Cardiovascular Diseases Disease or Syndrome 33 4 0.120 None 1.000 2 2012 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.020 None 1.000 2 2013 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.410 None 1.000 2 2001 2017
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
disease Cardiovascular Diseases Disease or Syndrome 111 29 0.120 None 1.000 2 2004 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.020 None 1.000 2 2006 2018
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
disease Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 2 1990 1999
CUI: C0002940
Disease: Aneurysm
Aneurysm
disease Cardiovascular Diseases Pathologic Function 22 36 0.110 None 1.000 1 3 2008 2008
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2014 2014
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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2002 2002
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2002 2002
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: C0340613
Disease: Arterial aneurysm
Arterial aneurysm
disease Cardiovascular Diseases Anatomical Abnormality 10 2 0.010 None 1.000 1 1990 1990
CUI: C0340649
Disease: Dissection of iliac artery
Dissection of iliac artery
disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0553980
Disease: Endomyocardial Fibrosis
Endomyocardial Fibrosis
phenotype Cardiovascular Diseases Pathologic Function 20 0.300 None 1.000 1 2001 2001
CUI: C0679401
Disease: Vascular rupture
Vascular rupture
disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 1996 1996