HBD, hemoglobin subunit delta, 3045

N. diseases: 40; N. variants: 18
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 0.350 None 1.000 6 1982 1992
CUI: C0263454
Disease: Chloracne
Chloracne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 38 0.300 None 1.000 1 2007 2007
CUI: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.300 None 1.000 1 2010 2010
CUI: C0271990
Disease: delta-Thalassemia
delta-Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 7 0.130 None 1.000 3 7 1982 1992
CUI: C0271991
Disease: delta^0^ Thalassemia
delta^0^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 1 0.120 None 1.000 2 1 1983 1984
CUI: C0039730
Disease: Thalassemia
Thalassemia 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.100 None 1.000 12 1979 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 2 2 2017 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 2 2 2017 2019
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		phenotype Laboratory Procedure 40 220 0.100 None 1.000 2 3 2008 2011
CUI: C0474543
Disease: Hemoglobin A2 measurement
Hemoglobin A2 measurement 		phenotype Laboratory Procedure 3 5 0.100 None 1.000 1 1 2015 2015
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2015 2015
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 4 0.100 None 1.000 1 1 2010 2010
CUI: C0162701
Disease: Polysomnography
Polysomnography 		phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012
CUI: C4016178
Disease: DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE
DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE 		disease Finding 1 1 0.100 None 0 1
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.100 None 0
CUI: C4016190
Disease: DELTA-PLUS-THALASSEMIA
DELTA-PLUS-THALASSEMIA 		disease Finding 1 1 0.100 None 0 1
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		phenotype Finding 9 1 0.100 None 0
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.090 None 0.889 9 1982 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.090 None 0.889 9 1982 2015
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 49 0.080 None 1.000 8 1977 2015
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 35 0.060 None 1.000 6 1979 2006
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 80 43 0.030 None 1.000 3 2014 2016
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 0.030 None 1.000 3 1982 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.020 None 1.000 2 1995 1996
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 5 0.020 None 1.000 2 1 2015 2016