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GENE - TERM ANNOTATION REPORT

RGD ID: 1313517
Species: Homo sapiens
RGD Object: Gene
Symbol: ATF6
Name: activating transcription factor 6
Acc ID: HP:0011516
Term: Achromatopsia
Definition: A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.
Definition Source(s): https://orcid.org/0000-0001-8727-6592, PMID:12015282
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)
ATF6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia

PMID:28041643
ATF6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia

PMID:24033266
ATF6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Achromatopsia

PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 PMID:28492532
ATF6 IAGP 8699517HPO OMIM:616517
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