Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 Biomarker disease CTD_human Loss of NRF2 function exacerbates the pathophysiology of sickle cell disease in a transgenic mouse model. 29255069 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 GermlineCausalMutation disease ORPHANET Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. 24361300 2014
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 GeneticVariation disease UNIPROT Structure of fully liganded Hb ζ2β2s trapped in a tense conformation. 24100324 2013
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 Biomarker disease GENOMICS_ENGLAND Significant haemoglobinopathies: guidelines for screening and diagnosis. 20067565 2010
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 GeneticVariation disease UNIPROT How malaria has affected the human genome and what human genetics can teach us about malaria. 16001361 2005
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 Biomarker disease CTD_human Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. 81926 1978
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 GeneticVariation disease UNIPROT Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution. 1195378 1975
Entrez Id: 3043
Gene Symbol: HBB
HBB 		0.800 GeneticVariation disease UNIPROT Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. 13464827 1957
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2 		0.400 Biomarker disease CTD_human Genetic knockout of NRF2 demonstrates its role in developmentally regulated γ-globin gene expression and the ability to control oxidative stress and the phenotypic severity of SCD. 29255069 2018
Entrez Id: 3240
Gene Symbol: HP
HP 		0.390 Biomarker disease CTD_human Iron and infection: effects of host iron status and the iron-regulatory genes haptoglobin and NRAMP1 (SLC11A1) on host-pathogen interactions in tuberculosis and HIV. 16597321 2006
Entrez Id: 7124
Gene Symbol: TNF
TNF 		0.380 Biomarker disease CTD_human Plasma TNF-alpha was found to be greater in SCD subjects than in reported normal adult controls (p<0.05). 14965870 2004
Entrez Id: 7412
Gene Symbol: VCAM1
VCAM1 		0.370 Biomarker disease CTD_human Plasma zinc levels inversely correlate with vascular cell adhesion molecule-1 concentration in children with sickle cell disease. 16916123 2006
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		0.300 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
Entrez Id: 4879
Gene Symbol: NPPB
NPPB 		0.300 Biomarker disease CTD_human NT-proBNP as a marker of cardiopulmonary status in sickle cell anaemia in Africa. 20408845 2010
Entrez Id: 1723
Gene Symbol: DHODH
DHODH 		0.300 Biomarker disease CTD_human Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. 38827 1979
Entrez Id: 790
Gene Symbol: CAD
CAD 		0.300 Biomarker disease CTD_human Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. 38827 1979
Entrez Id: 7372
Gene Symbol: UMPS
UMPS 		0.300 Biomarker disease CTD_human Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. 38827 1979