Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 70494
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tert
Name: telomerase reverse transcriptase
Acc ID: DOID:2729
Term: dyskeratosis congenita
Definition: A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Dyskeratosis_congenita "DO" "DO", http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita "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)
Tert ISOTERT (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16247010 PMID:17785587 PMID:18042801
Tert ISOTERT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dyskeratosis congenitaPMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 PMID:16627250 PMID:17460043 PMID:17576681 PMID:17785587 PMID:18042801 PMID:18302718 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20871597 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21520174 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22037553 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22853774 PMID:23066086 PMID:23348503 PMID:23535731 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25365545 PMID:25393420 PMID:25562321 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26194807 PMID:26433962 PMID:26580448 PMID:26859482 PMID:27159321 PMID:27354474 PMID:27418648 PMID:27540018 PMID:27848944 PMID:28099038 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28495683 PMID:28818973 PMID:28873162 PMID:29146883 PMID:29483670 PMID:29625052 PMID:30203795 PMID:30523342 PMID:30603600 PMID:30791107 PMID:30995915 PMID:31119896 PMID:31395865 PMID:33035329 PMID:33718801 PMID:34019641 PMID:9536098
Go Back to source page   Continue to Ontology report