Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100187828
Gene name Gene Name - the full gene name approved by the HGNC.
-
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HBD
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
-
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
-
Summary Summary of gene provided in NCBI Entrez Gene.
The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2
Transcription factors
Transcription factor Regulation Reference
ELF4 Activation 15286431
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
146350 N/A N/A
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Iron-Refractory Iron Deficiency Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Delta-thalassemia delta-Thalassemia, delta^0^ Thalassemia rs34224604, rs35324967, rs35654785, rs34975911, rs36023765, rs35887507, rs63750345, rs35661168, rs35518301
Unknown
Disease term Disease name Evidence References Source
Delta-Beta Thalassemia delta-beta-thalassemia GenCC
Associations from Text Mining
Disease Name Relationship Type References
alpha Thalassemia Associate 32901995, 35741722
Anemia Associate 37548329
Anemia hypochromic microcytic Associate 4078867
Anemia Iron Deficiency Associate 32901995
Anemia Sickle Cell Associate 14587045
beta Thalassemia Associate 10814985, 14587045, 17222202, 22801970, 2458154, 30777047, 32068918, 32770585, 32901995, 34828427, 35741722, 40140352, 4078867, 7682618
Carcinoma Basal Cell Associate 16796735
Carcinoma Squamous Cell Associate 24732135
Colorectal Neoplasms Associate 26038828
Delta Beta Thalassemia Associate 11493481, 1520881, 1742490, 2875756, 6162860, 6179097, 6323412, 9029004