BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 Biomarker disease BEFREE Some of these shared susceptibility loci regulate the expression of relevant genes involved in NCC formation and developmental processes (such as <i>BARD1,</i><i>MSX1,</i> and <i>SHOX2</i>) and are enriched in several epigenetic markers from NB and fetal heart cell lines. 31480262 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 AlteredExpression disease BEFREE Low-level expression of full-length BARD1 associated with advanced neuroblastoma. 30132831 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease GWASCAT Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. 28924153 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 Biomarker disease BEFREE Further evidence for a dualistic role came with the identification of BARD1 as a neuroblastoma predisposition gene in our genome wide association study which has demonstrated that single nucleotide polymorphisms in BARD1 can correlate with risk or can protect against cancer based on their association with the expression of FL and splice variants of BARD1. 29292755 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 AlteredExpression disease BEFREE Citalopram drastically decreased the expression of MYBL2, BIRC5 and BARD1 poor prognosis factors of neuroblastoma with fold-changes of -107 (p<2.26 10-7), -24.1 (p<5.6 10-9) and -17.7 (p<1.2 10-7). 28467792 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease BEFREE Our results suggest that the BARD1 rs6435862 T>G and rs3768716 A>G polymorphisms may contribute to increased susceptibility to neuroblastoma, especially for the subjects at age ≥12 months, with adrenal gland-originated or with late clinical stage neuroblastoma. 26941572 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 AlteredExpression disease BEFREE CHD9, a cancer driver gene, was the most significantly altered (4.0% of cases) after ALK.Other genes (PTK2, NAV3, NAV1, FZD1 and ATRX), expressed in neuroblastoma and involved in cell invasion and migration were mutated at frequency ranged from 4% to 2%.Focal adhesion and regulation of actin cytoskeleton pathways, were frequently disrupted (14.1% of cases) thus suggesting potential novel therapeutic strategies to prevent disease progression.Notably BARD1, CHEK2 and AXIN2 were enriched in rare, potentially pathogenic, germline variants.In summary, whole exome and deep targeted sequencing identified novel cancer genes of clinically aggressive neuroblastoma. 27009842 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 Biomarker disease BEFREE By using the ICSNPathway to analyze neuroblastoma GWAS data, 15 candidate SNPs, 10 genes including IL3, BARD1, and CFL, and 31 pathways were identified that might contribute to the susceptibility of patients to neuroblastoma. 24293394 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 Biomarker disease BEFREE These results provide further evidence that the risk loci identified in GWA studies contribute to NB susceptibility in distinct populations and strengthen the role of BARD1 as major genetic contributor to NB risk. 23222812 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 Biomarker disease CTD_human The genetic landscape of high-risk neuroblastoma. 23334666 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease BEFREE Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. 22350409 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease GWASCAT Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. 22941191 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease GWASDB Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. 22941191 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease BEFREE Common BARD1 SNPs affect risk of neuroblastoma in African-Americans. 22328350 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease GWASDB Integrative genomics identifies LMO1 as a neuroblastoma oncogene. 21124317 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 Biomarker disease BEFREE Our genome-wide association study (GWAS) has identified common variants within FLJ22536, BARD1, and LMO1 as significantly associated with neuroblastoma and more robustly associated with high-risk disease. 21436895 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease GWASCAT Integrative genomics identifies LMO1 as a neuroblastoma oncogene. 21124317 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease GWASCAT These data show that common variation in BARD1 contributes to the etiology of the aggressive and most clinically relevant subset of human neuroblastoma. 19412175 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 Biomarker disease CTD_human These data show that common variation in BARD1 contributes to the etiology of the aggressive and most clinically relevant subset of human neuroblastoma. 19412175 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease BEFREE These data show that common variation in BARD1 contributes to the etiology of the aggressive and most clinically relevant subset of human neuroblastoma. 19412175 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.500 GeneticVariation disease GWASDB These data show that common variation in BARD1 contributes to the etiology of the aggressive and most clinically relevant subset of human neuroblastoma. 19412175 2009