Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Alpha thalassemia was found in 41 (41.0%) patients compared to 24 (38.1%) controls (P = 0.744), and all were due to the 3.7 κb α-globin gene deletions. 30129219

2019

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia's diagnosis and management. 31060505

2019

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Alpha thalassemia was found in 41 (41.0%) patients compared to 24 (38.1%) controls (P = 0.744), and all were due to the 3.7 κb α-globin gene deletions. 30129219

2019

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 Biomarker BEFREE Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype. 30489691

2019

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia's diagnosis and management. 31060505

2019

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 Biomarker BEFREE Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype. 30489691

2019

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 Biomarker BEFREE Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation. 29749692

2018

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation. 29749692

2018

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Low red cell indices occurred in iron-replete students with alpha-thalassaemia including those with single alpha-globin gene deletions. 29409695

2018

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Low red cell indices occurred in iron-replete students with alpha-thalassaemia including those with single alpha-globin gene deletions. 29409695

2018

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Inherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. 28887661

2017

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Inherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. 28887661

2017

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation. 28342932

2017

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Northern Thailand is one of the highest α-thalassemia incidence areas where 30-40% of inhabitants have been reported to carry aberrant α-globin genes. 27077764

2016

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Northern Thailand is one of the highest α-thalassemia incidence areas where 30-40% of inhabitants have been reported to carry aberrant α-globin genes. 27077764

2016

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 Biomarker GENOMICS_ENGLAND Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C). 26757782

2016

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. 27271331

2016

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Homozygous Southeast Asian alpha-thalassemia mutation (--(SEA)/--(SEA)) results in deletion of all alpha-globin genes (alpha(0)-thalassemia). 25116001

2015

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE The result showed 97% sensitivity in α-thalassemia carriers with 2 α-globin genes deletion and Hb H disease. 25450870

2015

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 Biomarker BEFREE Alpha-thalassemia is characterized by reduction or absence of the α-globin chains due to deletional or non-deletional mutations of α-globin genes located on chromosome 16. 26474154

2015

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE The result showed 97% sensitivity in α-thalassemia carriers with 2 α-globin genes deletion and Hb H disease. 25450870

2015

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Homozygous Southeast Asian alpha-thalassemia mutation (--(SEA)/--(SEA)) results in deletion of all alpha-globin genes (alpha(0)-thalassemia). 25116001

2015

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number. 24930900

2015

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Alpha-thalassemia (α-thal) is a disorder caused by the deletion of single or double α-globin genes, and/or point mutations in the α-globin genes. 26593158

2015

Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.800 GeneticVariation BEFREE Alpha-thalassemia (α-thal) is a disorder caused by the deletion of single or double α-globin genes, and/or point mutations in the α-globin genes. 26593158

2015