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GENE - TERM ANNOTATION REPORT

RGD ID: 12495624
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Tctn2
Name: tectonic family member 2
Acc ID: DOID:0070120
Term: Meckel syndrome 6
Definition: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18513680 "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)
Tctn2 ISOTCTN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Meckel syndrome, type 6PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 PMID:26729329 PMID:27894351 PMID:28492532 PMID:31428121 PMID:32552793
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