Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5367
Gene Symbol: PMCH
PMCH
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.070 Biomarker BEFREE The HbBart's level, MCV and MCH are helpful for identifying α-thalassemia. 24095765

2014

Entrez Id: 5367
Gene Symbol: PMCH
PMCH
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.070 AlteredExpression BEFREE The total hemoglobin level and hematocrit were significantly high, and the MCV and MCH were significantly low in HbSD with alpha thalassemia. 24245819

2014

Entrez Id: 5367
Gene Symbol: PMCH
PMCH
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.070 Biomarker BEFREE Alpha-thalassaemia carriers presented higher red blood cell counts, RDW-CV (p < 0.001) and lower haemoglobin, MCV, MCH and MCHC (p < 0.001) than controls. 22012829

2011

Entrez Id: 5367
Gene Symbol: PMCH
PMCH
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.070 Biomarker BEFREE In a statistical comparison with normal individuals (alpha alpha/alpha alpha), significant differences were found between the hemocytometric data and the MCV and MCH of heterozygous alpha + thalassemia and the heterozygous alpha zero or homozygous alpha + genotype. 9580456

1998

Entrez Id: 5367
Gene Symbol: PMCH
PMCH
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.070 AlteredExpression BEFREE Patients with sickle cell disease and alpha thalassemia had higher hemoglobin (Hb) levels, RBC counts, and Hb A2 levels, and lower reticulocyte counts, MCV, MCH, and Hb F levels than those with a normal alpha genotype. 2827816

1988

Entrez Id: 5367
Gene Symbol: PMCH
PMCH
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.070 Biomarker BEFREE In patients without alpha-thalassemia Hb F was positively correlated with MCV and MCH (p less than 0.001), patients with high Hb F levels having macrocytosis confirmed by microhematocrit studies. 2420172

1986

Entrez Id: 5367
Gene Symbol: PMCH
PMCH
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.070 Biomarker BEFREE Examination of red cell indices showed a highly significant reduction in the average MCV and MCH of parents with positive HbH preparations, and a diagnosis of alpha-thalassaemia (based on the presence of HbH inclusion bodies and reductions in MCV and/or MCH) was made in at least one parent in the majority of couples with both partners tested, suggesting that alpha-thalassaemia trait in people of Mediterranean origin is generally associated with detectable haematological changes. 530752

1979