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GENE - TERM ANNOTATION REPORT

RGD ID: 10588
Species: Mus musculus
RGD Object: Gene
Symbol: Fhl1
Name: four and a half LIM domains 1
Acc ID: DOID:0070251
Term: X-linked Emery-Dreifuss muscular dystrophy 6
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18179888 "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)
Fhl1 ISOFHL1 (Homo sapiens)7240710OMIM  
Fhl1 ISOFHL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophyPMID:16199547 PMID:17576681 PMID:18179888 PMID:18179901 PMID:18274675 PMID:19171836 PMID:19181672 PMID:19377476 PMID:19687455 PMID:19716112 PMID:20186852 PMID:20571991 PMID:20633900 PMID:21520333 PMID:21629301 PMID:21683594 PMID:22094483 PMID:22523091 PMID:22923418 PMID:23169582 PMID:23500067 PMID:23965743 PMID:24114807 PMID:24634512 PMID:25191266 PMID:25246303 PMID:25274776 PMID:25741868 PMID:25965631 PMID:26265627 PMID:26467025 PMID:26627873 PMID:2663542 PMID:26857240 PMID:27409453 PMID:27443559 PMID:27532257 PMID:27841901 PMID:28444561 PMID:28492532 PMID:28611399 PMID:28694073 PMID:29434030 PMID:29661763 PMID:29926425 PMID:31204143 PMID:31273321 PMID:31568572 PMID:31803991 PMID:32001145 PMID:32102154 PMID:32587768 PMID:32815737 PMID:33673806 PMID:36291626 PMID:7722535 PMID:9536098
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