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GENE - TERM ANNOTATION REPORT

RGD ID: 1307148
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col4a1
Name: collagen type IV alpha 1 chain
Acc ID: DOID:0060263
Term: porencephaly
Definition: A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Cerebral_softening "DO" "DO", https://en.wikipedia.org/wiki/Porencephaly "DO" "DO"
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)
Col4a1 ISOCOL4A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:607595 PMID:23225343
Col4a1 ISOCOL4A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: PorencephalyPMID:10713126 PMID:10896941 PMID:12011424 PMID:16159887 PMID:16199547 PMID:16598045 PMID:17078022 PMID:17576681 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:21527998 PMID:21625620 PMID:22102590 PMID:2211826 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23225343 PMID:24088041 PMID:24374867 PMID:24628545 PMID:25457163 PMID:25706114 PMID:25719457 PMID:25741868 PMID:26310487 PMID:26362372 PMID:26467025 PMID:26633545 PMID:27794444 PMID:28442301 PMID:28492532 PMID:28750028 PMID:29137252 PMID:29602769 PMID:29770612 PMID:29927466 PMID:30087447 PMID:30315939 PMID:30413629 PMID:30653986 PMID:31008308 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31857254 PMID:31903434 PMID:31922066 PMID:32033901 PMID:32515830 PMID:32732225 PMID:32901917 PMID:33353976 PMID:33527515 PMID:34114234 PMID:35150448 PMID:35711275 PMID:36035189 PMID:36411388 PMID:3691802 PMID:37644014 PMID:37673932 PMID:37830085 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608
Col4a1 ISSCol4a1 (Mus musculus)13592920MouseDO  
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