TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		1.000 CausalMutation disease CLINVAR
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		1.000 Biomarker disease CTD_human
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.500 CausalMutation disease CLINVAR
CUI: C0002871
Disease: Anemia
Anemia 		0.130 Biomarker disease HPO
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0003864
Disease: Arthritis
Arthritis 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.100 Biomarker disease HPO
CUI: C0034150
Disease: Purpura
Purpura 		0.100 Biomarker disease HPO
CUI: C0151900
Disease: Serum iron raised
Serum iron raised 		0.100 Biomarker phenotype HPO
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 Biomarker phenotype HPO
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		0.100 Biomarker phenotype HPO
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.100 Biomarker disease HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.100 Biomarker disease HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.100 Biomarker disease HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.500 AlteredExpression disease BEFREE To determine the potential role for TfR2 in iron uptake by liver, we investigated TfR and TfR2 expression in normal mice and murine models of dietary iron overload (2% carbonyl iron), dietary iron deficiency (gastric parietal cell ablation), and HH (HFE -/-). 10681454 2000
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE To determine the potential role for TfR2 in iron uptake by liver, we investigated TfR and TfR2 expression in normal mice and murine models of dietary iron overload (2% carbonyl iron), dietary iron deficiency (gastric parietal cell ablation), and HH (HFE -/-). 10681454 2000
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		0.020 AlteredExpression disease BEFREE To determine the potential role for TfR2 in iron uptake by liver, we investigated TfR and TfR2 expression in normal mice and murine models of dietary iron overload (2% carbonyl iron), dietary iron deficiency (gastric parietal cell ablation), and HH (HFE -/-). 10681454 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3. 10802645 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE The identification of HFE, the principal determinant of adult haemochromatosis (HFE1; OMIM 235200) and TfR2, recently implicated in a rarer form of the inherited disorder (HFE3; OMIM 604250), and the promise of candidate genes for juvenile haemochromatosis (HFE2; OMIM 602390) and neonatal haemochromatosis (OMIM 231100) provide the foundation for important studies into the control mechanism of iron balance in humans. 11005792 2000