HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Disease: Cyanosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 GeneticVariation phenotype BEFREE A 47-year-old female with medical history of vulvar cancer and HIV undergoing chemoradiation was sent by the oncology clinic to the emergency department for worsening dyspnea, fatigue, hypoxia to 78% on room air, and gradual onset of cyanosis over the past week.A methemoglobin (MetHb) level was 49%. 27754990 2018
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 AlteredExpression phenotype BEFREE The increase of methemoglobin up to 13.8% was accompanied by hypoxemia and cyanosis, necessitating additional inspired oxygen and CPAP ventilation. 28082013 2017
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 AlteredExpression phenotype BEFREE The median methemoglobin level was 13.5% (ranging between 4.2% and 33.9%) and physical examination revealed cyanosis of the skin and mucus membranes. 27879543 2017
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 AlteredExpression phenotype BEFREE Treatment with ascorbic acid relieved the cyanosis and returned methemoglobin levels to normal. 19579085 2009
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 Biomarker phenotype BEFREE We found that an abnormal hemoglobin with a very low oxygen affinity was responsible for overt cyanosis in an otherwise healthy adolescent. 1272328 1976
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 Biomarker phenotype HPO