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 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: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.400 CausalMutation phenotype CLINVAR
CUI: C0002871
Disease: Anemia
Anemia 		0.170 Biomarker disease HPO
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.150 Biomarker phenotype HPO
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		0.130 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F 		0.100 Biomarker phenotype HPO
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		0.100 Biomarker disease HPO
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.090 AlteredExpression disease BEFREE The relative concentrations of alpha-, beta-, and gamma-globin mRNA sequences were measured in bone marrow nuclear and cytoplasmic RNA and in RNA from peripheral blood reticulocytes of three patients with homozygous beta+ thalassemia. 71735 1977
CUI: C0039730
Disease: Thalassemia
Thalassemia 		0.100 GeneticVariation group BEFREE Correlation of haematological data and the location of deletions in two cases of HPFH and one case of deltabeta-thalassaemia suggest that a region of DNA located near the 5'-end of the delta-globin gene may be involved in the suppression in cis of gamma-globin gene expression in adults. 450109 1979
CUI: C0271986
Disease: delta beta^0^ Thalassemia
delta beta^0^ Thalassemia 		0.010 AlteredExpression disease BEFREE Comparison of the foetal (gamma) globin gene expression in adults with (delta beta(0))-thalassaemia and Hba Lepore suggests that the 3' extragenic regions of the beta-globin gene contain DNA sequences involved in the regulation of gamma-globulin gene expression. 478302 1979
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.300 Biomarker disease CTD_human The early phase of experimental acute renal failure. I. Intratubular pressure and obstruction. 562503 1977
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency 		0.300 Biomarker disease CTD_human The early phase of experimental acute renal failure. I. Intratubular pressure and obstruction. 562503 1977
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.300 Biomarker disease CTD_human The early phase of experimental acute renal failure. I. Intratubular pressure and obstruction. 562503 1977
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.100 Biomarker disease BEFREE In time course experiments performed in subjects carrying haemoglobin Hasharon and beta-thalassaemia the synthesis of alphaA-, alphaHasharon-, beta- and gamma-globin has been determined. 698126 1978
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.100 Biomarker disease BEFREE In time course experiments performed in subjects carrying haemoglobin Hasharon and beta-thalassaemia the synthesis of alphaA-, alphaHasharon-, beta- and gamma-globin has been determined. 698126 1978
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.300 Biomarker disease CTD_human We used the qualitative Hanssen technique in albino rats to seek morphologic demonstration of tubular obstruction in two types of acute renal failure: one induced by folic acid and another by methemoglobin. 851170 1977
CUI: C0028961
Disease: Oliguria
Oliguria 		0.300 Biomarker phenotype CTD_human Morphologic demonstration of tubular obstruction in acute renal failure. 851170 1977
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency 		0.300 Biomarker disease CTD_human Morphologic demonstration of tubular obstruction in acute renal failure. 851170 1977
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.300 Biomarker disease CTD_human Morphologic demonstration of tubular obstruction in acute renal failure. 851170 1977