HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C1611743
Disease:
Familial (FPAH) 		0.030 GeneticVariation BEFREE In individuals with an isolated hyperferritinaemia (normal transferrin saturation), the presence of early onset (familial) cataract should raise the possibility of HHCS, even when Cys282Tyr heterozygosity is found. 14692443 2003
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C1611743
Disease:
Familial (FPAH) 		0.030 GeneticVariation BEFREE Homozygosity for the C282Y hemochromatosis mutation was associated with an earlier onset of skin lesions in both familial and sporadic porphyria cutanea tarda, the effect being more marked in familial porphyria cutanea tarda where anticipation was demonstrated in family studies. 11069625 2000
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C1611743
Disease:
Familial (FPAH) 		0.030 GeneticVariation BEFREE Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease? 10520044 1999