FANCG, FA complementation group G, 2189

N. diseases: 132; N. variants: 19
Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation disease CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant. 25703136 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation disease CLINVAR Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant. 25703136 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE 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. 25477267 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE This study shows that mutations in FANCA and FANCG are common in Korean FA patients and the existence of four common founder mutations in an East Asian FA population. 23067021 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation disease CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE FANCG is one of Fanconi anemia susceptibility genes that participate in DSB repair pathway to prevent chromosomal aberrations. 21750350 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE FANCA and FANCG are members of the FA core complex for which no other functions have been described than to participate in protein interactions. 22036606 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE After successful mono-allelic deletion of all genes, the sequential homozygous deletion was achieved only for FANCC and FANCG, acting upstream, but not for BRCA2 or FANCD2, acting downstream in the FA pathway. 17387268 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE We investigated a possible role for the Fanconi anemia (FA) pathway in particulate Cr(VI)-induced chromosomal damage by focusing on the Fancg gene, which plays an important role in cellular resistance to DNA interstrand crosslinks. 17097336 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Given that FANCA, FANCC, and FANCG complementation groups account for more than 90% of all FA patients, these data provide evidence that IFN-gamma conditioning may be a useful nongenotoxic strategy for myelopreparation in FA patients. 16946306 2006
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular pathogenesis of Fanconi anemia: recent progress. 16493006 2006
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE Two retrovirally complemented pancreatic cancer cell lines having defects in the Fanconi anemia pathway, PL11 (FANCC-mutated) and Hs766T (FANCG-mutated), as well as several parental pancreatic cancer cell lines with or without mutations in the Fanconi anemia/BRCA2 pathway, were assayed for in vitro and in vivo sensitivities to various chemotherapeutic agents. 16243825 2005
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE These data indicate that the birth incidence of FA in this population is higher than 1 in 40 000, which is much higher than previously supposed, and suggest that the FANCG deletion is an ancient founder mutation in Bantu-speaking populations of sub-Saharan Africa. 15657175 2005
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE Since carriers of germline BRCA2 gene mutations have an increased risk of developing pancreatic cancer, the FA pathway has been investigated as a tumor suppressor pathway in pancreatic cancer.Recently van der Heijden et al. identified FANCC and FANCG gene mutations in patients with young-onset pancreatic cancer. 14726700 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 AlteredExpression disease LHGDN Our observations indicate that accelerated telomere shortening in patients with FA is not due to a role of FANCG at telomeres but instead may be secondary to the disease. 15319283 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Our observations indicate that accelerated telomere shortening in patients with FA is not due to a role of FANCG at telomeres but instead may be secondary to the disease. 15319283 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE An adenoviral vector encoding a dominant-negative form of FANCA, FANCA600DN, was generated that interfered with endogenous FANCA-FANCG interaction resulting in the disruption of the FA pathway as illustrated by disturbed FANCD2 monoubiquitination. 15192709 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease LHGDN Direct sequencing of genomic DNA from seven FA-G probands with one mutant allele not detected in the SSCP study and three additional probands assigned to the FA-G complementation group by retroviral correction with FANCG resulted in the detection of nine additional pathogenic mutations and two common SNPs. 12552564 2003
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation disease CLINVAR Direct sequencing of genomic DNA from seven FA-G probands with one mutant allele not detected in the SSCP study and three additional probands assigned to the FA-G complementation group by retroviral correction with FANCG resulted in the detection of nine additional pathogenic mutations and two common SNPs. 12552564 2003
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease CLINVAR Direct sequencing of genomic DNA from seven FA-G probands with one mutant allele not detected in the SSCP study and three additional probands assigned to the FA-G complementation group by retroviral correction with FANCG resulted in the detection of nine additional pathogenic mutations and two common SNPs. 12552564 2003
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE In the present study, 45 unrelated FA families in Japan were screened for FA gene mutations and 10 families with biallelic pathogenic mutations of FANCG/XRCC9, the gene for FA-G, were identified. 12673805 2003
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation disease CLINVAR Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population. 12673805 2003
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Direct sequencing of genomic DNA from seven FA-G probands with one mutant allele not detected in the SSCP study and three additional probands assigned to the FA-G complementation group by retroviral correction with FANCG resulted in the detection of nine additional pathogenic mutations and two common SNPs. 12552564 2003