HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
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: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		disease Disease or Syndrome 1 4 0.710 None 1.000 7 4 1989 2015
CUI: C0277941
Disease: Blanching of skin
Blanching of skin 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2019 2019
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
CUI: C0271995
Disease: HPFH deletion type
HPFH deletion type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
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 2016 2016
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		phenotype Finding 4 20 0.400 None 1.000 1 3 2015 2015
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 1994 1994
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 0.010 None 1.000 1 1988 1988
CUI: C0221016
Disease: Red blood cell disorder
Red blood cell disorder 		group Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2005 2005
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 6 8 0.010 None 1.000 1 1 1972 1972
CUI: C0005833
Disease: Blood Sedimentation
Blood Sedimentation 		phenotype Laboratory Procedure 7 8 0.100 None 1.000 1 1 2012 2012
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 45 0.010 None 1.000 1 2013 2013
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		disease Anatomical Abnormality 7 0.100 None 0
CUI: C2873756
Disease: Severe beta thalassemia
Severe beta thalassemia 		disease Disease or Syndrome 9 0.010 None 1.000 1 1982 1982
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F 		phenotype Finding 9 0.100 None 0
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: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		phenotype Laboratory Procedure 10 19 0.100 None 1.000 1 1 2013 2013
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 3 0.130 None 0.667 3 2017 2019
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 0.030 None 0.667 3 1982 1985
CUI: C0334381
Disease: Non-infiltrating lobular carcinoma
Non-infiltrating lobular carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 0.010 None 1.000 1 1994 1994
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1972 1972
CUI: C0472761
Disease: Homozygous alpha thalassemia
Homozygous alpha thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.010 None 1.000 1 1992 1992
CUI: C0028961
Disease: Oliguria
Oliguria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 0.300 None 1.000 1 1977 1977
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 1.000 37 1982 2019
CUI: C3158111
Disease: response to SSRI
response to SSRI 		phenotype Cell Function 28 53 0.100 None 1.000 1 1 2018 2018