COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		0.400 Biomarker disease GENOMICS_ENGLAND Further refinement of COL4A1 and COL4A2 related cortical malformations. 30315939 2018
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		0.400 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		0.400 GeneticVariation disease CLINVAR Reorganizing the protein space at the Universal Protein Resource (UniProt). 22102590 2012
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		0.400 GeneticVariation disease CLINVAR Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		0.400 GeneticVariation disease CLINVAR Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045 2006
CUI: C4013035
Disease: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 		0.400 Biomarker disease GENOMICS_ENGLAND