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GENE - TERM ANNOTATION REPORT

RGD ID: 1561191
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Grhl2
Name: grainyhead-like transcription factor 2
Acc ID: DOID:0080669
Term: posterior polymorphous corneal dystrophy 4
Definition: A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29499165/ "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)
Grhl2 ISOGRHL2 (Homo sapiens)7240710OMIM  
Grhl2 ISOGRHL2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4PMID:24033266 PMID:25741868 PMID:28492532 PMID:29499165
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