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GENE - TERM ANNOTATION REPORT

RGD ID: 1310707
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Diaph1
Name: diaphanous-related formin 1
Acc ID: DOID:0110541
Term: autosomal dominant nonsyndromic deafness 1
Definition: An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. (DO)
Definition Source(s): PMID:9360932 "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)
Diaph1 ISODIAPH1 (Homo sapiens)7240710OMIM  
Diaph1 ISODIAPH1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Diaph1 ISODIAPH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROMEPMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34125151 PMID:34279089 PMID:35307828 PMID:36118902 PMID:9360932 PMID:9536098
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