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GENE - TERM ANNOTATION REPORT

RGD ID: 1316672
Species: Mus musculus
RGD Object: Gene
Symbol: Krt14
Name: keratin 14
Acc ID: DOID:14501
Term: Sjogren-Larsson syndrome
Definition: A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome "DO" "DO", https://www.omim.org/entry/270200 "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)
Krt14 ISOKRT14 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophreniaPMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490
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