HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
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: C4016148
Disease: ALPHA-THALASSEMIA-2, NONDELETIONAL
ALPHA-THALASSEMIA-2, NONDELETIONAL 		disease Finding 1 1 0.100 None 0 1
CUI: C4016158
Disease: ALPHA-THALASSEMIA, HMONG TYPE
ALPHA-THALASSEMIA, HMONG TYPE 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0272003
Disease: alpha^+^ Thalassemia, deletion type
alpha^+^ Thalassemia, deletion type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 1996 1996
CUI: C0272081
Disease: Hemoglobin D trait
Hemoglobin D trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 1983 1983
CUI: C1260397
Disease: Alpha thalassemia minor
Alpha thalassemia minor 		disease Disease or Syndrome 2 0.010 None < 0.001 1 1989 1989
CUI: C3841469
Disease: Hb E beta zero thalassemia
Hb E beta zero thalassemia 		disease Disease or Syndrome 2 0.010 None 1.000 1 1991 1991
CUI: C0475813
Disease: Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 0
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		disease Disease or Syndrome 2 10 0.100 None 0 8
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		disease Disease or Syndrome 2 12 0.100 None 0 4
CUI: C0272005
Disease: Hemoglobin Bart's hydrops syndrome
Hemoglobin Bart's hydrops syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.040 None 0.750 4 1989 2019
CUI: C2825560
Disease: S-Beta Thalassemia
S-Beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.020 None 1.000 2 1989 1996
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 0.010 None 1.000 1 1984 1984
CUI: C0272082
Disease: Hemoglobin E trait
Hemoglobin E trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1991 1991
CUI: C0521800
Disease: Central cyanosis
Central cyanosis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Sign or Symptom 3 0.010 None 1.000 1 2019 2019
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 19 0.600 strong 1.000 1 1 1991 1991
CUI: C0795917
Disease: Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 3 0.310 None 1.000 1 2007 2007
CUI: C2873754
Disease: Severe alpha thalassemia
Severe alpha thalassemia 		disease Disease or Syndrome 3 0.010 None 1.000 1 1987 1987
CUI: C3278365
Disease: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
HEMOGLOBIN H HYDROPS FETALIS SYNDROME 		disease Disease or Syndrome 3 0.300 strong 1.000 1 2016 2016
CUI: C3844575
Disease: Hb E beta-thalassemia
Hb E beta-thalassemia 		disease Disease or Syndrome 3 0.010 None 1.000 1 1981 1981
CUI: C1260396
Disease: Alpha thalassemia intermedia
Alpha thalassemia intermedia 		disease Disease or Syndrome 3 0.300 None 0
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Neoplastic Process 4 3 0.020 None 1.000 2 1987 2004
CUI: C0850672
Disease: hereditary anemia
hereditary anemia 		disease Disease or Syndrome 4 0.020 None 1.000 2 2001 2004
CUI: C0271987
Disease: ^A^gamma delta beta^0^ thalassemia
^A^gamma delta beta^0^ thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 1986 1986
CUI: C0472777
Disease: Hemoglobin E/beta thalassemia disease
Hemoglobin E/beta thalassemia disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2015 2015
CUI: C4023136
Disease: Reduced alpha/beta synthesis ratio
Reduced alpha/beta synthesis ratio 		phenotype Finding 4 0.100 None 0