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GENE - TERM ANNOTATION REPORT

RGD ID: 620104
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gdf6
Name: growth differentiation factor 6
Acc ID: DOID:0080589
Term: Klippel-Feil syndrome 1
Definition: A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18425797 "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)
Gdf6 ISOGDF6 (Homo sapiens)7240710OMIM  
Gdf6 ISOGDF6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominantPMID:18425797 PMID:19129173 PMID:19864492 PMID:20057906 PMID:20494911 PMID:21070663 PMID:22204637 PMID:23307924 PMID:24033266 PMID:24442880 PMID:25741868 PMID:25741869 PMID:28492532 PMID:32737436 PMID:38025229 PMID:9129173
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