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GENE - TERM ANNOTATION REPORT

RGD ID: 1558019
Species: Mus musculus
RGD Object: Gene
Symbol: Ofd1
Name: OFD1, centriole and centriolar satellite protein
Acc ID: DOID:0050777
Term: Joubert syndrome
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Joubert_syndrome "DO" "DO", http://omim.org/entry/213300?search=joubert&highlight=joubert "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)
Ofd1 ISOOFD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndromePMID:16783569 PMID:18546297 PMID:25741868 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532
Ofd1 ISOOFD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disordersPMID:11179005 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 PMID:9536098
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