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 Biomarker disease GENOMICS_ENGLAND Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India. 26500940 2015
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 GeneticVariation disease UNIPROT A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A]. 24502349 2014
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 GeneticVariation disease UNIPROT A hemoglobin variant associated with neonatal cyanosis and anemia. 21561349 2011
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 GeneticVariation disease BEFREE We identified a missense mutation in the fetal Gγ-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. 21561349 2011
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 GeneticVariation disease UNIPROT Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 19065339 2008
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 GeneticVariation disease UNIPROT Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 7741137 1995
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 GeneticVariation disease UNIPROT Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 2483933 1989
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.710 GeneticVariation disease UNIPROT Mutant fetal hemoglobin causing cyanosis in a newborn. 2470017 1989
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: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GeneticVariation disease BEFREE First, transcription factors, BCL11A and LRF/ZBTB7A, that mediate silencing of the β-like fetal (γ-) globin gene after birth have been identified and demonstrated to act at the γ-globin promoters, precisely at recognition sequences disrupted in rare individuals with hereditary persistence of fetal hemoglobin. 30355263 2019
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GeneticVariation disease BEFREE Some forms of hereditary persistence of fetal hemoglobin (HPFH), a rare benign condition in which individuals express the γ-globin gene throughout adulthood, are caused by point mutations in the γ-globin gene promoter at regions residing ~115 and 200 bp upstream of the transcription start site. 29610478 2018
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GeneticVariation disease BEFREE Mutations within the β-globin CCAAT box result in β-thalassaemia, while mutations within the distal γ-globin CCAAT box cause the Hereditary Persistence of Foetal Haemoglobin, a benign condition which results in continued γ-globin expression during adult life. 27718361 2017
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GeneticVariation disease BEFREE For example, in hereditary persistence of fetal hemoglobin (HPFH), a benign genetic condition, mutations attenuate γ-globin-to-β-globin switching, causing high-level HbF expression throughout life. 27525524 2016
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.400 Biomarker phenotype GENOMICS_ENGLAND Inheritance of Hereditary Persistence of Fetal Haemoglobin (HPFH) in a Family of Western Odisha, India. 26500940 2015
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GermlineCausalMutation disease ORPHANET Influence of Xmn 1(G)γ (HBG2 c.-211 C → T) Globin Gene Polymorphism on Phenotype of Thalassemia Patients of North India. 25435729 2014
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GermlineCausalMutation disease ORPHANET Two novel mutations (HBG1: c.-250C > T and HBG2: c.-250C > T) associated with hereditary persistence of fetal hemoglobin. 24144231 2014
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 AlteredExpression disease BEFREE However, expression of the functional γ-globin subunit in adults, a benign condition called hereditary persistence of fetal hemoglobin (HPFH), can ameliorate the severity of these disorders, but this expression is normally silenced. 23337982 2013
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GermlineCausalMutation disease ORPHANET The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter. 19050890 2009
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GeneticVariation disease BEFREE G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece. 18096417 2008
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 GeneticVariation disease BEFREE However, certain point mutations in the gamma-globin gene promoter are capable of maintaining expression of this gene during adult erythropoiesis, a condition called non-deletion hereditary persistence of fetal hemoglobin (HPFH). 17114178 2007
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 AlteredExpression disease BEFREE In addition, our findings provide a mechanism for understanding the high levels of gamma-globin transcription seen in patients with Hereditary Persistence of Fetal Hemoglobin, and help explain why 5azaC and butyrate compounds stimulate gamma-globin expression in patients with beta-hemoglobinopathies. 17183675 2006
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 AlteredExpression disease BEFREE The genetic mechanisms underlying the continued expression of the gamma-globin genes during the adult stage in deletional hereditary persistence of fetal hemoglobin (HPFH) and deltabeta-thalassemias are not completely understood. 16952470 2006
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.400 AlteredExpression disease BEFREE In order to address these problems, we investigated an enhancer element identified from individuals with deletional hereditary persistence of fetal hemoglobin 2 (HPFH2), a genetic condition characterized by elevated levels of gamma-globin in adults. 15944728 2005