Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 Biomarker disease GENOMICS_ENGLAND Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. 27906107 2016
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 GeneticVariation disease UNIPROT Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. 19538529 2009
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 GeneticVariation disease CLINVAR beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism. 11703334 2001
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 CausalMutation disease CLINVAR Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene. 9714702 1998
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 GeneticVariation disease CLINVAR Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. 8844207 1996
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 GeneticVariation disease CLINVAR Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 7883966 1995
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 GeneticVariation disease UNIPROT Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. 8102379 1993
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 Biomarker disease GENOMICS_ENGLAND Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. 8226774 1993
Entrez Id: 6710
Gene Symbol: SPTB
SPTB
0.700 Biomarker disease CTD_human
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.010 Biomarker disease BEFREE Chromatin immunoprecipitation studies showed that GATA1 and the CBP acetyltransferase bind to GATA1-HS2, significantly increasing CBP-specific histone acetylations at the LTRs and β-globin promoter. 22164220 2011
Entrez Id: 1977
Gene Symbol: EIF4E
EIF4E
0.010 Biomarker disease BEFREE Chromatin immunoprecipitation studies showed that GATA1 and the CBP acetyltransferase bind to GATA1-HS2, significantly increasing CBP-specific histone acetylations at the LTRs and β-globin promoter. 22164220 2011
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW
0.010 Biomarker disease BEFREE Chromatin immunoprecipitation studies showed that GATA1 and the CBP acetyltransferase bind to GATA1-HS2, significantly increasing CBP-specific histone acetylations at the LTRs and β-globin promoter. 22164220 2011
Entrez Id: 57060
Gene Symbol: PCBP4
PCBP4
0.010 Biomarker disease BEFREE Chromatin immunoprecipitation studies showed that GATA1 and the CBP acetyltransferase bind to GATA1-HS2, significantly increasing CBP-specific histone acetylations at the LTRs and β-globin promoter. 22164220 2011
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
0.010 Biomarker disease BEFREE Chromatin immunoprecipitation studies showed that GATA1 and the CBP acetyltransferase bind to GATA1-HS2, significantly increasing CBP-specific histone acetylations at the LTRs and β-globin promoter. 22164220 2011
Entrez Id: 55824
Gene Symbol: PAG1
PAG1
0.010 Biomarker disease BEFREE Chromatin immunoprecipitation studies showed that GATA1 and the CBP acetyltransferase bind to GATA1-HS2, significantly increasing CBP-specific histone acetylations at the LTRs and β-globin promoter. 22164220 2011
Entrez Id: 1435
Gene Symbol: CSF1
CSF1
0.010 GeneticVariation disease BEFREE Whereas only approximately 10% of the colony-forming unit-granulocyte/macrophage (CFU-GM) colonies cloned from mock-infected cells survived the G418-selection at a final active concentration of 250 micrograms/mL of the drug, the extent of the CFU-GM colony formation initiated with the recombinant AAV-Neo virions was as follows: 15% with vTK-Neo, 22% with vCSF1-Neo and 49% with vHS2-CSF1-Neo. 8391471 1993