COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 11; N. variants: 393
Source: CLINVAR ×
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 1 388 1.000 definitive 1.000 26 388 1980 2019
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 21 442 0.600 definitive 1.000 0 4 1988 2015
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 6 31 0.410 strong 1.000 0 1 1990 2016
CUI: C0002940
Disease: Aneurysm
Aneurysm 		disease Cardiovascular Diseases Pathologic Function 12 36 0.110 None 1.000 0 3 2008 2008
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.110 None 1.000 0 1 2017 2017
CUI: C0334083
Disease: Connective tissue nevus, NOS
Connective tissue nevus, NOS 		disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
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 2 2 0.100 None 0 1
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		disease Cardiovascular Diseases Congenital Abnormality 6 16 0.100 None 0 1
CUI: C0347646
Disease: Perforation of colon
Perforation of colon 		disease Digestive System Diseases Disease or Syndrome 1 1 0.100 None 0 1
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: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 3 7 0.100 None 0 1