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GENE - TERM ANNOTATION REPORT

RGD ID: 2810
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hnf4a
Name: hepatocyte nuclear factor 4, alpha
Acc ID: DOID:0080760
Term: Fanconi renotubular syndrome 4
Definition: A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24285859/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31875549/ "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)
Hnf4a ISOHNF4A (Homo sapiens)7240710OMIM  
Hnf4a ISOHNF4A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngPMID:10227563 PMID:12627330 PMID:15123688 PMID:15826954 PMID:17563455 PMID:18268044 PMID:18356407 PMID:20164212 PMID:21105491 PMID:21683639 PMID:22802087 PMID:23227446 PMID:23247789 PMID:23348805 PMID:23485969 PMID:23771925 PMID:24097065 PMID:24285859 PMID:25741868 PMID:25819479 PMID:25905084 PMID:26059258 PMID:26467025 PMID:27245055 PMID:27884173 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28844315 PMID:29355436 PMID:30005691 PMID:30191603 PMID:30977832 PMID:31264968 PMID:31529154 PMID:31529156 PMID:31595705 PMID:31875549 PMID:32418360 PMID:32583173 PMID:33846082 PMID:34373539 PMID:35052457 PMID:35118593 PMID:35256061 PMID:36208030 PMID:36257325
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