COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 51; N. variants: 57
Source: CURATED ×
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: C1843512
Disease: BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE 		disease Disease or Syndrome 1 0.820 None 1.000 4 2005 2013
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		phenotype Finding 1 1 0.400 strong 1.000 3 2007 2010
CUI: C2675650
Disease: Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly 		disease Disease or Syndrome 1 0.300 None 1.000 2 2006 2007
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		disease Finding 2 2 0.600 None 1.000 2 2 2007 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 133 505 0.420 strong 1.000 1 2007 2017
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
RETINAL ARTERIES, TORTUOSITY OF 		phenotype Finding 1 1 0.700 None 1.000 1 1 2014 2014
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2006 2018
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 53 442 0.300 limited 0
CUI: C1135196
Disease: Heart Failure, Diastolic
Heart Failure, Diastolic 		disease Cardiovascular Diseases Disease or Syndrome 33 0.300 None 1.000 1 2018 2018
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 1 0.510 strong 1.000 3 2007 2010
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 3 0.300 None 1.000 2 2007 2010
CUI: C1280768
Disease: Axenfeld syndrome
Axenfeld syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.300 None 1.000 2 2007 2010
CUI: C2678503
Disease: AXENFELD-RIEGER SYNDROME, TYPE 3
AXENFELD-RIEGER SYNDROME, TYPE 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 27 0.300 None 1.000 2 2007 2010
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.300 None 1.000 2 2007 2010
CUI: C3714873
Disease: Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 15 0.300 None 1.000 2 2007 2010
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 17 0.300 None 1.000 1 2010 2010
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 15 42 0.520 None 1.000 1 2011 2015
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 15 0.900 None 1.000 18 15 1977 2018
CUI: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 2 0.600 None 1.000 2 1977 2020
CUI: C1867983
Disease: PORENCEPHALY, FAMILIAL
PORENCEPHALY, FAMILIAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.830 None 1.000 2 1 1977 2016
CUI: C3698507
Disease: Post-traumatic Porencephaly
Post-traumatic Porencephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 2 0.500 None 1.000 2 1977 2013
CUI: C4082173
Disease: Porencephaly
Porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.400 None 1.000 2 1977 2020
CUI: C4082301
Disease: Developmental Porencephaly
Developmental Porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 2 0.300 None 1.000 2 1977 2013
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 6 0.750 strong 1.000 2 2 2013 2019
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2015 2015