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GENE - TERM ANNOTATION REPORT

RGD ID: 621637
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pex6
Name: peroxisomal biogenesis factor 6
Acc ID: DOID:0080624
Term: Heimler syndrome 2
Definition: A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16530715 "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)
Pex6 ISOPEX6 (Homo sapiens)7240710OMIM  
Pex6 ISOPEX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4CPMID:10408779 PMID:11004248 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17041890 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:21520333 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25079599 PMID:25525159 PMID:25741868 PMID:25741915 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26593283 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27007981 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:29220678 PMID:29676688 PMID:31216405 PMID:31831025 PMID:31884617 PMID:31964843 PMID:32214787 PMID:32399598 PMID:33003980 PMID:33776059 PMID:34055681 PMID:34387732 PMID:34448047 PMID:34662339 PMID:3515938 PMID:36785559 PMID:8670792 PMID:9536098
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