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GENE - TERM ANNOTATION REPORT

RGD ID: 69294
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Litaf
Name: lipopolysaccharide-induced TNF factor
Acc ID: DOID:0110151
Term: Charcot-Marie-Tooth disease type 1C
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12525712 "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)
Litaf ISOLITAF (Homo sapiens)7240710OMIM  
Litaf ISOLITAF (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Litaf ISOLITAF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1CPMID:12525712 PMID:1407588 PMID:15122712 PMID:15776420 PMID:15776429 PMID:15786462 PMID:16118794 PMID:16373087 PMID:16787513 PMID:17576681 PMID:19541485 PMID:20301384 PMID:20709679 PMID:21896645 PMID:2239969 PMID:22765307 PMID:23166352 PMID:23319192 PMID:23359569 PMID:23576546 PMID:24604904 PMID:24844793 PMID:24880540 PMID:25058650 PMID:25342198 PMID:25614874 PMID:25741868 PMID:25963657 PMID:26392352 PMID:26467025 PMID:27549087 PMID:28211240 PMID:28492532 PMID:32376792 PMID:34311727 PMID:9536098
Litaf ISSLitaf (Mus musculus)13592920MouseDOOMIM:601098 
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