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: 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: 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: 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: C0406584
Disease: Acrogeria, gottron type
Acrogeria, gottron type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2000 2000
CUI: C0007871
Disease: Uterine Cervical Incompetence
Uterine Cervical Incompetence 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 1 0.100 None 0
CUI: C1390214
Disease: Internal hemorrhage
Internal hemorrhage 		phenotype Pathologic Function 1 0.100 None 0
CUI: C1851811
Disease: Hypermobility of distal interphalangeal joints
Hypermobility of distal interphalangeal joints 		phenotype Finding 1 0.100 None 0
CUI: C4540530
Disease: EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT
EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0524948
Disease: Maxillofacial Abnormalities
Maxillofacial Abnormalities 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 2 0.200 None 1.000 1 1999 1999
CUI: C1834819
Disease: MYXOMATOUS MITRAL VALVE PROLAPSE 1
MYXOMATOUS MITRAL VALVE PROLAPSE 1 		disease Cardiovascular Diseases Disease or Syndrome 2 3 0.010 None 1.000 1 2004 2004
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: C0338586
Disease: Vertebral Artery Dissection
Vertebral Artery Dissection 		disease Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 3 0.300 strong 1.000 1 1995 1995
CUI: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 3 0.100 None 0 1
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2003 2003
CUI: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 1991 1991
CUI: C0679401
Disease: Vascular rupture
Vascular rupture 		disease Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 1996 1996
CUI: C0010695
Disease: Cystocele
Cystocele 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture 		phenotype Female Urogenital Diseases and Pregnancy Complications; Wounds and Injuries Pathologic Function 4 0.100 None 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm 		phenotype Cardiovascular Diseases Pathologic Function 4 0.100 None 0
CUI: C1851808
Disease: Premature delivery because of cervical insufficiency or membrane fragility
Premature delivery because of cervical insufficiency or membrane fragility 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 4 1 0.100 None 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		phenotype Finding 4 0.100 None 0
CUI: C4022868
Disease: Abnormal circle of Willis morphology
Abnormal circle of Willis morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0012819
Disease: Diverticular disease of colon
Diverticular disease of colon 		disease Digestive System Diseases Disease or Syndrome 5 2 0.010 None < 0.001 1 2018 2018
CUI: C0155760
Disease: Rupture of artery
Rupture of artery 		disease Disease or Syndrome 5 0.010 None 1.000 1 2010 2010
CUI: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors 		disease Disease or Syndrome 5 0.100 None 0