Annotation Detail

Information
Associated Genes
RAG1
Associated Variants
RAG1 p.Lys820Arg (p.K820R) ( ENST00000299440.6, ENST00000697713.1, ENST00000697714.1, ENST00000697715.1 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 )
RAG1 p.Lys820Arg (p.K820R) ( ENST00000299440.6, ENST00000697713.1, ENST00000697714.1, ENST00000697715.1 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 )
Associated Disease
Lymphoma, Follicular
Source Database
DisGeNET
Description
We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) genes in 108 patients with histologically proven FL diagnosis and 127 healthy controls.
Pubmed
21476145
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2012
Drugs