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GENE - TERM ANNOTATION REPORT

RGD ID: 736559
Species: Homo sapiens
RGD Object: Gene
Symbol: ESR1
Name: estrogen receptor 1
Acc ID: DOID:0111618
Term: autosomal recessive spinocerebellar ataxia 8
Definition: An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17159980 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/27086870 "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)
ESR1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce typePMID:26467025 PMID:28492532
ESR1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce typePMID:28492532
ESR1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia 
ESR1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce typePMID:25741868 PMID:27782104 PMID:28492532
ESR1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8PMID:25741868 PMID:26467025 PMID:28492532
ESR1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce typePMID:25741868 PMID:28492532
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