TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Disease: Sporadic porphyria cutanea tarda ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda 		0.010 GeneticVariation disease BEFREE S65C, C282Y), and in a case control study we searched for an association between sPCT and the human transferrin receptor-1 (TFRC1) gene whose product is thought to be in functional association with the HFE protein: three single nucleotide polymorphisms (SNPs) previously characterized and 2 novel ones were studied. 11929045 2002