rs770897887, TMPRSS6

N. diseases: 1
Disease: Iron-Refractory Iron Deficiency Anemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876 2015
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Sequencing analysis of the TMPRSS6 gene in 21 new IRIDA patients from 16 families with different ethnic origin reveal 17 novel mutations, including the most frequent mutation in Southern Italy (p.W590R). 25156943 2014
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. 21618415 2012
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. 22581667 2012
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562 2010
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450 2010
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. 19357398 2009
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. 19592582 2009
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia. 19747362 2009
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. 19708871 2009
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 18408718 2008
Iron-Refractory Iron Deficiency Anemia
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
0.700 GeneticVariation UNIPROT A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. 18603562 2008