HBD (-)

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Gene Transcription factors Other IDs Associated diseases Related genes Diseases linked via similar genes

Gene

• 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 factor	Regulation	Reference
ELF4	Activation	15286431

Other IDs

• MIM: 146350
• HGNC: N/A
• e!Ensembl: N/A

Interactions View interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (6)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
delta Thalassemia	Pathogenic	rs35324967, rs35654785, rs34975911, rs36023765, rs34430836, rs63750345, rs35661168	RCV000016219 RCV000016223 RCV000016224 RCV000016225 RCV000016226 RCV000016237 RCV000016238	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delta-0-thalassemia	Pathogenic	rs34224604, rs35887507	RCV004797763 RCV000016229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delta-plus-thalassemia	Pathogenic	rs35518301	RCV000016240	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN A(2) BABINGA	Pathogenic	rs35849348	RCV000016189	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN A(2) GROVETOWN	Pathogenic	rs34430836	RCV000016227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs36023765	RCV005887529	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (49)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	17101203	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELTA ZERO THALASSEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELTA-BETA THALASSEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delta-beta-thalassemia	Conflicting classifications of pathogenicity	ClinVar CTD, Orphanet CTD, Orphanet	1301204, 1301204	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DELTA-THALASSEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERALDOSTERONISM TYPE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal hemoglobin quantitative trait locus 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glucocorticoid-remediable aldosteronism	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HBD-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) ADRIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) AGRINIO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) CAMPANIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) CANADA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) CAPRI	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) COBURG	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) CORFU	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) FITZROY	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) FLATBUSH	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) HONAI	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) INDONESIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) LUCANIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) MANZANARES	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) MELBOURNE	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) METAPONTO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) MONREALE	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) NIIGATA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) NINIVE	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) NYU	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) PARKVILLE	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) PELENDRI	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) PUGLIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) ROOSEVELT	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) SANT' ANTIOCO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) SPHAKIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) TROODOS	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) VICTORIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) WRENS	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) YIALOUSA	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) YOKOSHIMA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2) ZAGREB	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN A(2)-PRIME	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN B(2)	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN E DISEASE	—	GWAS catalog	20183929	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FLATBUSH (GEORGIA)	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LEPORE-BETA-THALASSEMIA SYNDROME	—	Orphanet	18932069	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NYU	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPORE-BETA-THALASSEMIA SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thalassemia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining Show/Hide Text Mining Associations (51)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1732019		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	32901995, 35741722	Associate	★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	LHGDN	15449937		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	37548329	Associate	★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	4078867	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Iron Deficiency	Iron deficiency anemia	Pubtator	32901995	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	14587045	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	7708766, 8916973		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	10473880, 1349739, 1398286, 17145605, 17916081, 19609526, 25352644, 30309760, 6288819, 6820119		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	10814985, 14587045, 17222202, 22801970, 2458154, 30777047, 32068918, 32770585, 32901995, 34828427, 35741722, 40140352, 4078867, 7682618	Associate	★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	23872310		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	10473880, 1349739, 1398286, 17145605, 17916081, 19609526, 25352644, 30309760, 6288819, 6820119		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	14587045, 17222202, 17339197, 25218786, 2767680, 6820119, 7682618, 923569		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	26935297		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	16796735	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24732135	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16796735		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26038828		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26038828	Associate	★☆☆☆☆ Found in Text Mining only
Delta-Beta Thalassemia	Delta-Beta Thalassemia	ORPHANET_DG	1301204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delta-Beta Thalassemia	Delta-Beta Thalassemia	BEFREE	1520881, 2458154, 2982369, 6179097, 6323412		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delta-beta-thalassemia	Delta-Beta Thalassemia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
delta-Thalassemia	Delta-Thalassemia	BEFREE	1309671, 1742490, 6292847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
delta-Thalassemia	Delta-Thalassemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
delta^0^ Thalassemia	Delta-Thalassemia	BEFREE	6307432, 6323412		★☆☆☆☆ Found in Text Mining only
delta^0^ Thalassemia	Delta-Thalassemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36339449	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	37797812	Inhibit	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	17222202	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	28007020	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin E disease	Hemoglobin E Disease	GWASCAT_DG	20183929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin F Disease	Hemoglobinopathy	BEFREE	2982369, 31044540, 6179097		★☆☆☆☆ Found in Text Mining only
Hemoglobin Lepore-beta-thalassemia syndrome	Hemoglobin Lepore-Beta-Thalassemia Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	Pubtator	21220744, 22028795, 35741722, 6275383	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	23872310, 25218786, 27461962		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21042595	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	37054625	Associate	★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	25043855		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	2456661		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16796735		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26038828		★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	3470293, 7524502		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29534847		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34504491	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29303375		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29534847		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26694100, 29132311	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	37874452	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	1742490, 26516624, 31044540, 34828427, 37548329, 40140352	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thalassemia Intermedia	Thalassemia	BEFREE	17222202		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

HBG1 2 shared diseasesChloracne, Delta-beta thalassemia 1 shared pathwayFactors involved in megakaryocyte development and platelet production 5 shared evidence sourcesCTD (Chloracne), Disgenet (Chloracne), Disgenet (Delta-beta thalassemia), Orphanet (Delta-beta thalassemia), CTD (Delta-beta thalassemia) Related via 2 shared diseases including Chloracne, Delta-beta thalassemia — evidence mostly CTD. HBB 5 shared diseasesChloracne, Delta-beta thalassemia, Hemoglobin e disease, Lepore-beta-thalassemia syndrome, Thalassemia 1 shared pathwayFactors involved in megakaryocyte development and platelet production 7 shared evidence sourcesCTD (Chloracne), Disgenet (Chloracne), Disgenet (Delta-beta thalassemia), Orphanet (Delta-beta thalassemia), GWAS catalog (Hemoglobin e disease), Disgenet (Lepore-beta-thalassemia syndrome), Disgenet (Thalassemia) Related via 5 shared diseases including Chloracne, Delta-beta thalassemia — evidence mostly Disgenet. HBA2 2 shared diseasesChloracne, Thalassemia 3 shared evidence sourcesCTD (Chloracne), Disgenet (Chloracne), Disgenet (Thalassemia) Related via 2 shared diseases including Chloracne, Thalassemia — evidence mostly Disgenet. BTG2 1 shared diseaseChloracne 2 shared evidence sourcesCTD (Chloracne), Disgenet (Chloracne) Related via 1 shared disease including Chloracne — evidence mostly CTD. ZNF683 1 shared diseaseChloracne 2 shared evidence sourcesCTD (Chloracne), Disgenet (Chloracne) Related via 1 shared disease including Chloracne — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HBG1	2	["Chloracne","Delta-beta thalassemia"]	1	["Factors involved in megakaryocyte development and platelet production"]	5	["CTD (Chloracne)","Disgenet (Chloracne)","Disgenet (Delta-beta thalassemia)","Orphanet (Delta-beta thalassemia)","CTD (Delta-beta thalassemia)"]
HBB	5	["Chloracne","Delta-beta thalassemia","Hemoglobin e disease","Lepore-beta-thalassemia syndrome","Thalassemia"]	1	["Factors involved in megakaryocyte development and platelet production"]	7	["CTD (Chloracne)","Disgenet (Chloracne)","Disgenet (Delta-beta thalassemia)","Orphanet (Delta-beta thalassemia)","GWAS catalog (Hemoglobin e disease)","Disgenet (Lepore-beta-thalassemia syndrome)","Disgenet (Thalassemia)"]
HBA2	2	["Chloracne","Thalassemia"]	0	[]	3	["CTD (Chloracne)","Disgenet (Chloracne)","Disgenet (Thalassemia)"]
BTG2	1	["Chloracne"]	0	[]	2	["CTD (Chloracne)","Disgenet (Chloracne)"]
ZNF683	1	["Chloracne"]	0	[]	2	["CTD (Chloracne)","Disgenet (Chloracne)"]

Diseases Linked via Similar Genes

Hemoglobin f disease Linked via 2 of 5 related genesHBG1, HBB Anemia Linked via 2 of 5 related genesHBB, HBA2 Secondary polycythemia Linked via 2 of 5 related genesHBB, HBA2 Beta thalassemia Linked via 2 of 5 related genesHBB, HBA2 Erythrocytosis Linked via 2 of 5 related genesHBB, HBA2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hemoglobin f disease	2	["HBG1","HBB"]
Anemia	2	["HBB","HBA2"]
Secondary polycythemia	2	["HBB","HBA2"]
Beta thalassemia	2	["HBB","HBA2"]
Erythrocytosis	2	["HBB","HBA2"]