HBG1, hemoglobin subunit gamma 1, 3047

N. diseases: 65; N. variants: 8
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: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F
phenotype Finding 9 0.100 None 0
Iron-Refractory Iron Deficiency Anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.100 None 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
phenotype Finding 9 1 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure
disease Anatomical Abnormality 7 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.100 None 0.966 29 1976 2020
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.100 None 0.960 25 1976 2020
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.090 None 1.000 9 1977 2017
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 13 1 1979 2019
CUI: C0271986
Disease: delta beta^0^ Thalassemia
delta beta^0^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 0.010 None 1.000 1 1979 1979
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 0.979 48 1980 2020
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 0.400 None 0.978 46 1982 2019
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 0.969 32 1982 2016
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 0.833 6 1982 2008
CUI: C2873756
Disease: Severe beta thalassemia
Severe beta thalassemia
disease Disease or Syndrome 9 0.010 None 1.000 1 1982 1982
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 0.100 None 1.000 11 1 1984 2016
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.100 None 1.000 18 1986 2018
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.100 None 1.000 18 1986 2018
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid)
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 237 4 0.100 None 1.000 18 1986 2018
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 37 0.050 None 1.000 5 1987 2009
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 92 16 0.050 None 1.000 5 1987 2009
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 0.010 None 1.000 1 1987 1987
CUI: C0472772
Disease: Gamma thalassemia
Gamma thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 1987 1987