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GENE - TERM ANNOTATION REPORT

RGD ID: 1306705
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tmem237
Name: transmembrane protein 237
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)
Tmem237 ISOTMEM237 (Homo sapiens)11561921RGDDNA:nonsense,transition mutations:cds,splice junction:  
Tmem237 ISOTMEM237 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome and related disordersPMID:16199547 PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 PMID:26673778 PMID:28492532 PMID:31019026 PMID:31710777 PMID:34839509
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