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GENE - TERM ANNOTATION REPORT

RGD ID: 1306516
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fras1
Name: Fraser extracellular matrix complex subunit 1
Acc ID: DOID:0111405
Term: Fraser syndrome 1
Definition: A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12766769 "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)
Fras1 ISOFRAS1 (Homo sapiens)1598960RGDDNA:mutations:multiple (human) 
Fras1 ISOFRAS1 (Homo sapiens)7240710OMIM  
Fras1 ISOFRAS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26302956 PMID:26893459 PMID:27280866 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31319225 PMID:31738409 PMID:31923588 PMID:31999076 PMID:32436246 PMID:32488952 PMID:33726816 PMID:34246755 PMID:34906515 PMID:34974531 PMID:35005812 PMID:9536098
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