Annotation Detail

Information
Associated Genes
FANCG
Associated Variants
FANCG MUTATION
FANCG MUTATION
Associated Disease
pancytopenia
Source Database
DisGeNET
Description
Our results showed that patients, homozygous for the FANCG founder mutation, present with severe cytopenia but progress to bone marrow failure at similar ages to other individuals affected with FA of heterogeneous genotype.
Pubmed
25477267
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs