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GENE - TERM ANNOTATION REPORT

RGD ID: 2679
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gfap
Name: glial fibrillary acidic protein
Acc ID: DOID:4252
Term: Alexander disease
Definition: A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Alexander_disease "DO" "DO", http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm "DO" "DO", http://www.omim.org/entry/203450 "DO" "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract "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)
Gfap ISOGFAP (Homo sapiens)7240710OMIM  
Gfap ISOGFAP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:31484723
Gfap ISOGFAP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alexander disease | ClinVar Annotator: match by term: GFAP-related conditionPMID:11138011 PMID:11398833 PMID:11567214 PMID:11587071 PMID:11595337 PMID:11867077 PMID:12026242 PMID:12034785 PMID:12034796 PMID:12368989 PMID:12447932 PMID:12509855 PMID:12581808 PMID:12638020 PMID:12944715 PMID:12975300 PMID:14550921 PMID:14557587 PMID:15030911 PMID:15390001 PMID:15465095 PMID:15477559 PMID:15675360 PMID:15696488 PMID:15732097 PMID:15732098 PMID:15840648 PMID:16168593 PMID:16168595 PMID:16217707 PMID:16240361 PMID:16505300 PMID:16826512 PMID:16996408 PMID:17043438 PMID:17065456 PMID:17110673 PMID:17156703 PMID:17318298 PMID:17383133 PMID:17438228 PMID:17509491 PMID:17629821 PMID:17703343 PMID:17805552 PMID:17894839 PMID:17934883 PMID:17960815 PMID:17985264 PMID:18054694 PMID:18079314 PMID:18217876 PMID:18276609 PMID:18388212 PMID:18402384 PMID:18495313 PMID:18581469 PMID:18584981 PMID:18653683 PMID:18684770 PMID:19128991 PMID:19386454 PMID:1941292 PMID:19418047 PMID:19444543 PMID:19484233 PMID:19618846 PMID:19672978 PMID:19948199 PMID:20301351 PMID:20448479 PMID:20562394 PMID:20849398 PMID:21041050 PMID:21132324 PMID:21165639 PMID:21270471 PMID:21533827 PMID:21572052 PMID:21756903 PMID:21822933 PMID:219025661 PMID:21917775 PMID:21940697 PMID:21987397 PMID:22140645 PMID:22198646 PMID:22302460 PMID:22488673 PMID:22566711 PMID:22619055 PMID:22818990 PMID:23149175 PMID:23185175 PMID:23254569 PMID:23364391 PMID:23430549 PMID:23432455 PMID:23634874 PMID:23706596 PMID:23743246 PMID:23903069 PMID:23925719 PMID:24045243 PMID:24188966 PMID:24306001 PMID:24427505 PMID:24742911 PMID:24755947 PMID:25741868 PMID:25997626 PMID:26208460 PMID:26285664 PMID:26467025 PMID:26478912 PMID:26486469 PMID:26719496 PMID:26743065 PMID:27468269 PMID:27648269 PMID:27697855 PMID:27814755 PMID:28492532 PMID:28882119 PMID:28953922 PMID:29421207 PMID:29431177 PMID:30048824 PMID:30213442 PMID:30293991 PMID:30355306 PMID:30355500 PMID:30628038 PMID:31484723 PMID:31611638 PMID:31942421 PMID:31956193 PMID:32126152 PMID:34146839 PMID:34245630
Gfap ISSGfap (Mus musculus)13592920MouseDOOMIM:203450 
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