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GENE - TERM ANNOTATION REPORT

RGD ID: 70936
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col18a1
Name: collagen type XVIII alpha 1 chain
Acc ID: DOID:9002766
Term: Knobloch Syndrome Type I
Definition: null
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)
Col18a1 ISOCOL18A1 (Homo sapiens)7240710OMIM  
Col18a1 ISOCOL18A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1PMID:12415512 PMID:14695535 PMID:16199547 PMID:17576681 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23040494 PMID:23667181 PMID:24507774 PMID:25024173 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:31415705 PMID:34828430 PMID:9536098
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