HBD (-)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Other IDs Associated diseases
Entrez ID 100187828
Gene name -
Gene symbol HBD
Synonyms (NCBI Gene)
-
Chromosome -
Chromosome location -
Summary 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 factors information provided by TRRUST V2 database.
1
Gene Transcription factors Other IDs Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
ELF4 Activation 15286431
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
146350 N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
delta Thalassemia Pathogenic rs35324967, rs35654785, rs34975911, rs36023765, rs34430836, rs63750345, rs35661168 RCV000016219
RCV000016223
RCV000016224
RCV000016225
RCV000016226
RCV000016237
RCV000016238
Delta-0-thalassemia Pathogenic rs34224604, rs35887507 RCV004797763
RCV000016229
Delta-plus-thalassemia Pathogenic rs35518301 RCV000016240
HEMOGLOBIN A(2) BABINGA Pathogenic rs35849348 RCV000016189
Show/Hide Unknown Diseases (40)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Delta-beta-thalassemia Conflicting classifications of pathogenicity rs549964658 RCV004577549
Fetal hemoglobin quantitative trait locus 1 Conflicting classifications of pathogenicity; Uncertain significance rs35152987, rs886048395, rs186432678, rs755421119, rs113727122, rs112372029, rs886048394, rs144322869, rs1042760103, rs1847687778, rs746437742, rs751533248, rs777991732, rs1454993638 RCV001107109
RCV000283247
RCV000282076
RCV000323032
RCV000379968
RCV000321973
RCV000269929
RCV000374041
RCV001107105
RCV001107106
RCV001107107
RCV001107108
RCV001107778
RCV001107779
Glucocorticoid-remediable aldosteronism Conflicting classifications of pathogenicity rs35152987 RCV003987322
HBD-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs35769679, rs549964658, rs148878316, rs61746501, rs80018520 RCV003931038
RCV004758805
RCV003959366
RCV003930504
RCV003953476
Show/Hide Text Mining Associations (31)
Associations from Text MiningDisease 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