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GENE - TERM ANNOTATION REPORT

RGD ID: 329830044
Species: Homo sapiens
RGD Object: Gene
Symbol: LOC130004408
Name: ATAC-STARR-seq lymphoblastoid active region 3801
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)
LOC130004408 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome and related disordersPMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 PMID:2692869 PMID:28492532
LOC130004408 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome and related disordersPMID:25741868 PMID:28492532
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