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GENE - TERM ANNOTATION REPORT

RGD ID: 1561042
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cc2d2a
Name: coiled-coil and C2 domain containing 2A
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)
Cc2d2a ISOCC2D2A (Homo sapiens)7240710OMIM  
Cc2d2a ISOCC2D2A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cc2d2a ISOCC2D2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Meckel syndrome, type 6PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22995991 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25741868 PMID:25741913 PMID:25741914 PMID:26003401 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29039169 PMID:29987673 PMID:30202406 PMID:31130284 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:34645488 PMID:8253763 PMID:9536098
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