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GENE - TERM ANNOTATION REPORT

RGD ID: 1318014
Species: Homo sapiens
RGD Object: Gene
Symbol: NLRP3
Name: NLR family pyrin domain containing 3
Acc ID: DOID:0080270
Term: autosomal dominant nonsyndromic deafness 34
Definition: An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28847925/ "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)
NLRP3 IAGP 7240710OMIM  
NLRP3 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)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammationPMID:25741868 PMID:28492532
NLRP3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammationPMID:25741868 PMID:28492532 PMID:28847925
NLRP3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammationPMID:24033266 PMID:25741868 PMID:26467025 PMID:27612399 PMID:28492532 PMID:28692792 PMID:33329557
NLRP3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammationPMID:21810457 PMID:25741868 PMID:28492532
NLRP3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammationPMID:25741868
NLRP3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammationPMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 PMID:49161
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