RELA, RELA proto-oncogene, NF-kB subunit, 5970

N. diseases: 483; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10896028
rs10896028
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C0202239
Disease:
Uric acid measurement (procedure)
A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs11820062
rs11820062
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs863223356
rs863223356
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C0036346
Disease:
Schizophrenia, Childhood
G 0.700 GeneticVariation CLINVAR De novo variants in sporadic cases of childhood onset schizophrenia. 26508570 2016
dbSNP: rs1246637051
rs1246637051
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0278874
Disease:
Adult Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs1246637051
rs1246637051
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C1851584
Disease:
Childhood Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs1246637051
rs1246637051
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0796611
Disease:
Newly Diagnosed Childhood Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs1246637051
rs1246637051
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs1246637051
rs1246637051
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0014474
Disease:
Ependymoma
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854 2020
dbSNP: rs7101916
rs7101916
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE This study firstly reported that the carriage of RelA rs710</span>1916 T or RelB rs28372683 A was the potential protective factor against HCV infection among the Chinese population. 31346215 2019
dbSNP: rs11820062
rs11820062
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE This study demonstrates that a genetic variant involved in the NF-κB pathway gene (rs</span>11820062 A allele) is associated with an increased HCV susceptibility within a high-risk Chinese population. 29311624 2018
dbSNP: rs7119750
rs7119750
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0036690
Disease:
Septicemia
0.010 GeneticVariation BEFREE Four SNPs (rs28362491, rs4648068, rs7119750 and rs842647) within the canonical NF-κB pathway were genotyped, and rs842647 was associated with sepsis morbidity rate and MOD scores. 25880845 2015
dbSNP: rs7119750
rs7119750
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0243026
Disease:
Sepsis
0.010 GeneticVariation BEFREE Four SNPs (rs28362491, rs4648068, rs7119750 and rs842647) within the canonical NF-κB pathway were genotyped, and rs842647 was associated with sepsis morbidity rate and MOD scores. 25880845 2015
dbSNP: rs779944761
rs779944761
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.010 GeneticVariation BEFREE The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway. 25888769 2015
dbSNP: rs1481868107
rs1481868107
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE Finally, reducing p65 O-GlcNAcylation specifically by mutating two p65 O-GlcNAc sites (T322A and T352A) attenuated the induction of PDAC cell anchorage-independent growth. 23592772 2013
dbSNP: rs770882250
rs770882250
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C1832661
Disease:
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE Finally, reducing p65 O-GlcNAcylation specifically by mutating two p65 O-GlcNAc sites (T322A and T352A) attenuated the induction of PDAC cell anchorage-independent growth. 23592772 2013
dbSNP: rs11820062
rs11820062
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We found significant associations of three SNPs (rs11820062: p=0.00011, rs2306365: p=0.0031, and rs7119750: p=0.0080) with schizophrenia and stronger evidence for association in a multi-marker sliding window haplotype analysis (the lowest p=0.00006). 21593732 2011
dbSNP: rs2306365
rs2306365
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We found significant associations of three SNPs (rs11820062: p=0.00011, rs2306365: p=0.0031, and rs7119750: p=0.0080) with schizophrenia and stronger evidence for association in a multi-marker sliding window haplotype analysis (the lowest p=0.00006). 21593732 2011
dbSNP: rs7119750
rs7119750
Entrez Id: 5970
Gene Symbol: RELA
RELA
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We found significant associations of three SNPs (rs11820062: p=0.00011, rs2306365: p=0.0031, and rs7119750: p=0.0080) with schizophrenia and stronger evidence for association in a multi-marker sliding window haplotype analysis (the lowest p=0.00006). 21593732 2011
dbSNP: rs151125290
rs151125290
Entrez Id: 5970;105369347
Gene Symbol: RELA;RELA-DT
RELA;RELA-DT
CUI: C1275126
Disease:
TNF receptor-associated periodic fever syndrome (TRAPS)
0.010 GeneticVariation BEFREE Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I). 20071450 2010