Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia.
Pubmed
16257105
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.48
Year of publication
2006
Drugs