Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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100187828
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Gene name
Gene Name - the full gene name approved by the HGNC.
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- |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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HBD |
Synonyms (NCBI Gene)
Gene synonyms aliases
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- |
Chromosome
Chromosome number
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- |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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- |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
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Delta-thalassemia |
delta-Thalassemia, delta^0^ Thalassemia |
rs34224604, rs35324967, rs35654785, rs34975911, rs36023765, rs35887507, rs63750345, rs35661168, rs35518301 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Delta-Beta Thalassemia |
delta-beta-thalassemia |
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GenCC |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
alpha Thalassemia |
Associate
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32901995, 35741722 |
Anemia |
Associate
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37548329 |
Anemia hypochromic microcytic |
Associate
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4078867 |
Anemia Iron Deficiency |
Associate
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32901995 |
Anemia Sickle Cell |
Associate
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14587045 |
beta Thalassemia |
Associate
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10814985, 14587045, 17222202, 22801970, 2458154, 30777047, 32068918, 32770585, 32901995, 34828427, 35741722, 40140352, 4078867, 7682618 |
Carcinoma Basal Cell |
Associate
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16796735 |
Carcinoma Squamous Cell |
Associate
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24732135 |
Colorectal Neoplasms |
Associate
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26038828 |
Delta Beta Thalassemia |
Associate
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11493481, 1520881, 1742490, 2875756, 6162860, 6179097, 6323412, 9029004 |
delta Thalassemia |
Associate
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1309671, 1515647, 1742490, 25858298, 2759233, 32901995, 37548329, 6292847, 6323412 |
Diabetes Mellitus Type 2 |
Associate
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36339449 |
Distal myopathy Nonaka type |
Inhibit
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37797812 |
Fetal Diseases |
Associate
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6179097 |
Glycogen Storage Disease 0 Muscle |
Associate
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17222202 |
Growth Disorders |
Associate
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28007020 |
Hemoglobinopathies |
Associate
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21220744, 22028795, 35741722, 6275383 |
Inflammation |
Associate
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26694100 |
Inflammatory Bowel Diseases |
Associate
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21042595 |
Intrahepatic Cholestasis of Pregnancy |
Associate
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37054625 |
Malaria |
Associate
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26516624 |
Multiple Sclerosis |
Associate
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34504491 |
Neoplasms |
Associate
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24732135 |
Neoplasms |
Stimulate
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33955587 |
Neoplastic Syndromes Hereditary |
Associate
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6159595 |
Neoplastic Syndromes Hereditary |
Stimulate
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8474108 |
Obesity |
Associate
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26694100, 29132311 |
Osteoporosis |
Associate
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37874452 |
Primary Myelofibrosis |
Associate
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33686952 |
Syndrome |
Associate
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35741722 |
Thalassemia |
Associate
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1742490, 26516624, 31044540, 34828427, 37548329, 40140352 |
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