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GENE - TERM ANNOTATION REPORT

RGD ID: 1311375
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fig4
Name: FIG4 phosphoinositide 5-phosphatase
Acc ID: DOID:0060202
Term: amyotrophic lateral sclerosis type 11
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO" "DO", http://omim.org/entry/612577 "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)
Fig4 ISOFIG4 (Homo sapiens)7240710OMIM  
Fig4 ISOFIG4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Fig4 ISOFIG4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:26742954 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29468183 PMID:29518270 PMID:29650794 PMID:30373780 PMID:30740813 PMID:30792901 PMID:31313076 PMID:32022442 PMID:32376792 PMID:32385536 PMID:33502061 PMID:34426522 PMID:9536098
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