HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 CausalMutation disease CLINVAR
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 Biomarker disease CTD_human
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.400 CausalMutation phenotype CLINVAR
CUI: C0002871
Disease: Anemia
Anemia 		0.170 Biomarker disease HPO
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 Biomarker phenotype HPO
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		0.130 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F 		0.100 Biomarker phenotype HPO
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		0.100 Biomarker disease HPO
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.020 Biomarker disease BEFREE <b>Results:</b> Conditions of hyperglycaemia are characterized by a low affinity of hemoglobin to oxygen, which is manifested as a parallel decrease in the content of hemoglobin oxyform and the growth of deoxyform, methemoglobin and membrane-bound hemoglobin. 28912721 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.100 Biomarker disease BEFREE 5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia. 6183586 1982
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.100 Biomarker disease BEFREE 5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia. 6183586 1982
CUI: C2873756
Disease: Severe beta thalassemia
Severe beta thalassemia 		0.010 Biomarker disease BEFREE 5-Azacytidine selectivity increases gamma-globin synthesis and therefore provides a new approach to the treatment of severe beta-thalassemia. 6183586 1982
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE Sickle cell disease is a group of conditions characterized by production of abnormal hemoglobin, with clinical manifestations that vary by genotype and age. 10343888 1999
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 Biomarker disease BEFREE Hereditary persistence of fetal hemoglobin (HPFH) is one of the hemoglobinopathies in which the fetal gamma-globin genes remain active in adult life. 11074532 2000
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 AlteredExpression disease BEFREE Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life. 11285460 2001
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by a single point mutation in the human betaA globin gene that results in the formation of an abnormal hemoglobin [HbS (alpha2betaS2)]. 11743206 2001
CUI: C0039730
Disease: Thalassemia
Thalassemia 		0.100 Biomarker group BEFREE Thalassemia and abnormal hemoglobin. 12430905 2002
CUI: C0039730
Disease: Thalassemia
Thalassemia 		0.100 Biomarker group BEFREE Thalassemia and abnormal hemoglobin are the most common genetic disorders and are considered health problems in many developing countries. 22762348 2012
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 AlteredExpression group BEFREE B-cell lymphoma 11A (BCL11A) downregulation in human primary adult erythroid progenitors results in elevated expression of fetal γ-globin. 23361909 2013
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 GeneticVariation disease BEFREE Sickle cell trait (SCT) places individuals at risk of passing an abnormal hemoglobin gene to biological children and is associated with rare but serious complications. 27550467 2017