TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
Disease: Iron-Refractory Iron Deficiency Anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0085576
Disease:
Iron-Refractory Iron Deficiency Anemia 		0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943 2014
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0085576
Disease:
Iron-Refractory Iron Deficiency Anemia 		0.700 GeneticVariation UNIPROT We report one frameshift (p.Ala605ProfsX8) and four novel missense mutations (p.Glu114Lys, p.Leu235Pro, p.Tyr418Cys, p.Pro765Ala) found in IRIDA patients. 22581667 2012
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0085576
Disease:
Iron-Refractory Iron Deficiency Anemia 		0.700 GeneticVariation UNIPROT Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 18408718 2008
dbSNP: rs199474804
rs199474804
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
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