Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. 17196862

2007
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. 15286165

2004
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. 12601550

2003
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. 12063482

2002
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype. 11375302

2001
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. 10942404

2000
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. 9585598

1998
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. 9740232

1998
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Erythropoietic protoporphyria. 9211198

1997
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria. 8757534

1996
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Recessive inheritance of erythropoietic protoporphyria with liver failure. 7910885

1994
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT A molecular defect in human protoporphyria. 1376018

1992
dbSNP: rs118204037
rs118204037
FECH
0.700 GeneticVariation UNIPROT Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. 1755842

1991