Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
0.100 Biomarker disease BEFREE Fanconi anemia (FA) is a congenital disorder manifested with elevated sensitivity toward DNA interstrand cross-linking agents, and monoubiquitination of FANCD2 by FANCL is a crucial step in FA-mediated DNA repair. 28535027 2017
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.100 Biomarker disease BEFREE Fanconi anemia (FA) is a congenital disorder manifested with elevated sensitivity toward DNA interstrand cross-linking agents, and monoubiquitination of FANCD2 by FANCL is a crucial step in FA-mediated DNA repair. 28535027 2017
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.020 AlteredExpression disease BEFREE FA significantly enhanced the IGF1 receptor survival mechanism in the hearts of the 3xTg mice and suppressed the expression-intrinsic and extrinsic apoptosis-associated proteins. 29068127 2018
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
0.080 GeneticVariation disease BEFREE Fanconi anemia (FA) is a genetically heterogenous disease involving at least five genes on the basis of complementation analysis (FAA to FAE). 9169126 1997
Entrez Id: 79071
Gene Symbol: ELOVL6
ELOVL6
0.010 GeneticVariation disease BEFREE Fanconi anemia (FA) is a genetically heterogenous disease involving at least five genes on the basis of complementation analysis (FAA to FAE). 9169126 1997
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.070 Biomarker disease BEFREE Interferon-gamma-induced apoptotic responses of Fanconi anemia group C hematopoietic progenitor cells involve caspase 8-dependent activation of caspase 3 family members. 11110692 2000
Entrez Id: 7173
Gene Symbol: TPO
TPO
0.010 Biomarker disease BEFREE TPO concentrations in other inherited thrombocytopenias such as Fanconi anemia, Shwachman syndrome, Wiskott-Aldrich syndrome, and Bernard-Soulier syndrome are discussed. 11446655 2001
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
0.100 Biomarker disease BEFREE FANCD2, a downstream component of the FA pathway, has recently been shown to be ubiquitinated in response to DNA damage and to translocate to nuclear foci containing BRCA1, a breast cancer susceptibility gene product, suggesting a role for this protein in DNA repair functions. 11530803 2001
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
0.100 AlteredExpression disease BEFREE FANCF protein expression is normal in cells derived from all FA complementation groups except FA-F and does not vary during cell cycle progression. 11750104 2001
Entrez Id: 5599
Gene Symbol: MAPK8
MAPK8
0.010 AlteredExpression disease BEFREE Jun N-terminal kinase activity and early growth-response factor-1 gene expression are down-regulated in Fanconi anemia group A lymphoblasts. 12958075 2004
Entrez Id: 8743
Gene Symbol: TNFSF10
TNFSF10
0.010 Biomarker disease BEFREE TRAIL, in contrast to fas ligation, does not induce preferential apoptosis in FA-C phenotype cells despite shared downstream signaling described in non-FA models. 15345282 2004
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
0.080 Biomarker disease BEFREE FANCE is predominantly localized in the nucleus and acts as a molecular bridge between the FA core complex and FANCD2, through direct binding of both FANCC and FANCD2. 16513431 2006
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.100 GeneticVariation disease BEFREE BRCA2 mutations predispose carriers to breast and ovarian cancer and can also cause other cancers and Fanconi anemia. 16793542 2006
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
0.100 GeneticVariation disease BEFREE PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. 17200668 2007
Entrez Id: 10524
Gene Symbol: KAT5
KAT5
0.020 Biomarker disease BEFREE Tip60 is required for DNA interstrand cross-link repair in the Fanconi anemia pathway. 18263878 2008
Entrez Id: 2745
Gene Symbol: GLRX
GLRX
0.010 Biomarker disease BEFREE GLRX was misregulated to opposite directions in a variety of different FA subtypes. 18544920 2008
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
0.100 Biomarker disease BEFREE FANCJ was identified by its association with breast cancer, and is implicated in Fanconi Anemia. 19099189 2009
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
0.100 Biomarker disease BEFREE FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia. 19287902 2009
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
0.100 Biomarker disease BEFREE FANCJ has been proposed to function downstream of FANCD2 monoubiquitination, a critical event in the FA pathway. 19519404 2009
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
0.100 Biomarker disease BEFREE XPF-ERCC1 participates in the Fanconi anemia pathway of cross-link repair. 19805513 2009
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
0.100 Biomarker disease BEFREE FANCF protein is a component of the FA core complex. 19813073 2011
Entrez Id: 51311
Gene Symbol: TLR8
TLR8
0.010 AlteredExpression disease BEFREE TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. 19850743 2009
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 Biomarker disease BEFREE Tumor necrosis factor alpha (TNF-alpha) production is abnormally high in Fanconi anemia (FA) cells and contributes to the hematopoietic defects seen in FA complementation group C-deficient (Fancc(-/-)) mice. 19850743 2009
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
0.200 Biomarker disease BEFREE FANCM: A landing pad for the Fanconi Anemia and Bloom's Syndrome complexes. 20064455 2009
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.010 Biomarker disease BEFREE XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. 20137776 2010