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GENE - TERM ANNOTATION REPORT

CRRD ID: 14108784
Species: Sus scrofa
CRRD Object: Gene
Symbol: FRAS1
Name: Fraser extracellular matrix complex subunit 1
Acc ID: DOID:0111405
Term: Fraser syndrome 1
Definition: Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
Definition Source(s): url:https://www.ncbi.nlm.nih.gov/pubmed/12766769 "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 ISORGD:13151787240710OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.