HBD (-)

Gene
Gene Transcription factors Other IDs Associated diseases
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
Gene Transcription factors Other IDs Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ELF4 Activation 15286431
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
146350 N/A N/A
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Delta-Thalassemia Delta-0-thalassemia, delta Thalassemia, Delta-plus-thalassemia rs34224604, rs35324967, rs35654785, rs34975911, rs36023765, rs35887507, rs63750345, rs35661168, rs35518301 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Delta-Beta Thalassemia delta-beta-thalassemia N/A N/A GenCC
Hyperaldosteronism glucocorticoid-remediable aldosteronism N/A N/A ClinVar
thalassemia Thalassemia N/A N/A ClinVar
Show/Hide Text Mining Associations (31)
Associations from Text Mining Disease associations identified through Pubtator
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