Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 733374
Species: Homo sapiens
RGD Object: Gene
Symbol: ST14
Name: ST14 transmembrane serine protease matriptase
Acc ID: DOID:0060720
Term: autosomal recessive congenital ichthyosis 11
Definition: An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17273967 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18843291 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9450882 "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)
ST14 IAGP 7240710OMIM  
ST14 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:17273967 PMID:18445049
ST14 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11PMID:25741868 PMID:28492532
ST14 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11PMID:25741868
ST14 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11PMID:29611532
ST14 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11PMID:18843291 PMID:9450882
ST14 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11PMID:12207612 PMID:18843291
ST14 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11PMID:17273967
ST14 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11PMID:18445049
Go Back to source page   Continue to Ontology report