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GENE - TERM ANNOTATION REPORT

RGD ID: 1319026
Species: Homo sapiens
RGD Object: Gene
Symbol: MCOLN1
Name: mucolipin TRP cation channel 1
Acc ID: DOID:0111265
Term: Boucher-Neuhauser syndrome
Definition: A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24355708 "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)
MCOLN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndromePMID:25741868 PMID:26467025 PMID:28492532
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