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GENE - TERM ANNOTATION REPORT

RGD ID: 1303040
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ahi1
Name: Abelson helper integration site 1
Acc ID: DOID:0111589
Term: COACH syndrome
Definition: A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19574260 "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)
Ahi1 ISOAHI1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome with ocular defectPMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038
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