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GENE - TERM ANNOTATION REPORT

RGD ID: 1308796
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cyp4f39
Name: cytochrome P450, family 4, subfamily f, polypeptide 39
Acc ID: DOID:0060714
Term: autosomal recessive congenital ichthyosis 5
Definition: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10712223 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16436457 "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)
Cyp4f39 ISOCYP4F22 (Homo sapiens)7240710OMIM  
Cyp4f39 ISOCYP4F22 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cyp4f39 ISOCYP4F22 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessivePMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25741913 PMID:25998749 PMID:26056268 PMID:26646773 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33223529 PMID:33786896
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