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: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 34 16 0.110 None 1.000 1 2015 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: C1862932
Disease: ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.300 None 1.000 1 2012 2012
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: 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
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: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		phenotype Finding 32 0.100 None 0
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		disease Congenital Abnormality 11 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 0.100 None 0
CUI: C0340613
Disease: Arterial aneurysm
Arterial aneurysm 		disease Cardiovascular Diseases Anatomical Abnormality 10 2 0.010 None 1.000 1 1990 1990
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 101 14 0.010 None 1.000 1 2011 2011
CUI: C1857693
Disease: Arteriovenous fistulas of celiac and mesenteric vessels
Arteriovenous fistulas of celiac and mesenteric vessels 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 2 0.100 None 0
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 18 0.100 None 0
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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2017 2017
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 10 0.300 strong 1.000 1 1995 1995
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2017 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.020 None 1.000 2 2006 2018