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GENE - TERM ANNOTATION REPORT

RGD ID: 1313332
Species: Homo sapiens
RGD Object: Gene
Symbol: COL4A4
Name: collagen type IV alpha 4 chain
Acc ID: HP:0000545
Term: Myopia
Definition: An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
COL4A4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia

PMID:17396119 PMID:24033287 PMID:24854265 PMID:25741868 PMID:26934356 PMID:28492532 PMID:28632965 PMID:29496980 PMID:33048202 PMID:33532864 PMID:33838161 PMID:34584596
COL4A4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia

PMID:24033287 PMID:25741868 PMID:26934356 PMID:28492532 PMID:28632965 PMID:29496980 PMID:33048202 PMID:33838161 PMID:34584596
COL4A4 IAGP 8699517HPO OMIM:203780
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