HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Disease: HEMOCHROMATOSIS, TYPE 2B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation disease UNIPROT Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). 14630809 2004
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation disease UNIPROT A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. 15099344 2004
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation disease UNIPROT HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. 14670915 2004
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation disease UNIPROT Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 12915468 2003
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 Biomarker disease GENOMICS_ENGLAND Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 12915468 2003
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 Biomarker disease GENOMICS_ENGLAND Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 12915468 2003
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation disease UNIPROT Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. 14633868 2003
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 CausalMutation disease CLINVAR
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 Biomarker disease CTD_human
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		0.700 Biomarker disease GENOMICS_ENGLAND