HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
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: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 4 0.300 None 1.000 1 1993 1993
CUI: C0019021
Disease: Hemoglobin C Disease
Hemoglobin C Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.300 None 1.000 1 2011 2011
CUI: C0010520
Disease: Cyanosis
Cyanosis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.300 None 1.000 1 2005 2005
CUI: C0263454
Disease: Chloracne
Chloracne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 38 0.300 None 1.000 1 2007 2007
CUI: C4553297
Disease: Cystic Echinocccosis
Cystic Echinocccosis 		disease Infections Disease or Syndrome 26 1 0.300 None 1.000 1 2014 2014
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.300 None 1.000 1 1969 1969
CUI: C3889261
Disease: Other License Status
Other License Status 		phenotype Finding 4 0.300 strong 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 0.200 None 0.983 177 31 1972 2019
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 0.200 None 0.955 44 46 1975 2016
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 40 2 0.200 None 1.000 1 2011 2011
CUI: C4274391
Disease: Dominant beta-thalassemia
Dominant beta-thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 2 0.160 None 0.833 6 2 1988 2005
CUI: C1387532
Disease: Chronic hemolytic anemia
Chronic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 5 0.120 None 1.000 2 2017 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.120 None 0.500 2 1 2010 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.110 None 1.000 2 1 2019 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.110 None 1.000 2 2 2019 2019
CUI: C0008031
Disease: Chest Pain
Chest Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.110 None 1.000 1 2006 2006
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.110 None 1.000 1 5 2012 2012
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.110 None 1.000 1 2018 2018
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 0.989 88 2 1977 2019
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 0.100 None 0.958 24 1980 2018
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.100 None 1.000 23 1980 2017
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid) 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 237 4 0.100 None 1.000 19 1980 2017
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.100 None 1.000 19 1980 2017
CUI: C4321477
Disease: Sickle Cell-SS Disease
Sickle Cell-SS Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 2 0.100 None 1.000 18 1 1988 2019
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 75 16 0.100 None 1.000 18 1 1978 2019