HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Disease: CYANOSIS, TRANSIENT NEONATAL ×
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