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 GeneticVariation disease BEFREE 25, 14-15, 2000) identified a stop mutation (exon 6 nt 750 C --> T, Y250X) on the transferrin receptor-2 (TFR2) gene in two unrelated Sicilian families with hereditary hemochromatosis. 11358390 2001
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		1.000 GeneticVariation disease BEFREE Haemochromatosis type 3 is linked to a locus on 7q22 and is due to mutations in the transferrin receptor 2. 12401307 2002
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.500 Biomarker disease BEFREE Hereditary hemochromatosis and transferrin receptor 2. 21864651 2012
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.500 GeneticVariation disease BEFREE Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. 27896572 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.500 GeneticVariation disease BEFREE Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least five different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. 28335084 2017