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: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
phenotype Finding 9 1 0.100 None 0 1
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 2012 2012
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.040 None 1.000 4 1980 1998
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.020 None 1.000 2 1990 1992
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None 1.000 1 2004 2004
CUI: C1260396
Disease: Alpha thalassemia intermedia
Alpha thalassemia intermedia
disease Disease or Syndrome 3 0.300 None 0
CUI: C1260397
Disease: Alpha thalassemia minor
Alpha thalassemia minor
disease Disease or Syndrome 2 0.010 None < 0.001 1 1989 1989
CUI: C0472762
Disease: Alpha trait thalassemia
Alpha trait thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.140 None 1.000 4 2 1988 2013
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 37 0.800 strong 0.987 153 12 1971 2019
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
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: C4016158
Disease: ALPHA-THALASSEMIA, HMONG TYPE
ALPHA-THALASSEMIA, HMONG TYPE
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4016148
Disease: ALPHA-THALASSEMIA-2, NONDELETIONAL
ALPHA-THALASSEMIA-2, NONDELETIONAL
disease Finding 1 1 0.100 None 0 1
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: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 92 16 0.200 None 0.986 142 6 1979 2019
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: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 0.100 None 1.000 35 1977 2018
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.200 None 0.957 23 1 1979 2018
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.120 None 1.000 2 1988 1994
CUI: C0238644
Disease: Anemia, severe
Anemia, severe
disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.020 None 1.000 2 2005 2008
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 0.100 None 1.000 24 1984 2018
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes
disease Congenital Abnormality 11 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
phenotype Finding 52 0.100 None 0
CUI: C3539063
Disease: Bart's Hemoglobinopathy
Bart's Hemoglobinopathy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 1980 1980