Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 CausalMutation disease CLINVAR Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. 28093505 2017
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. 28614581 2017
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 CausalMutation disease CLINVAR Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. 23364466 2013
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease CLINVAR Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. 23364466 2013
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease CLINVAR Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. 18787536 2009
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 CausalMutation disease CLINVAR Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. 18787536 2009
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease CLINVAR A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. 19298273 2009
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. 17196862 2007
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 CausalMutation disease CLINVAR Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. 16385445 2006
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. 15286165 2004
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. 12601550 2003
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. 12063482 2002
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease 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
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. 10942404 2000
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. 9740232 1998
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 Biomarker disease GENOMICS_ENGLAND Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. 9649563 1998
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. 9585598 1998
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Erythropoietic protoporphyria. 9211198 1997
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria. 8757534 1996
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Recessive inheritance of erythropoietic protoporphyria with liver failure. 7910885 1994
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT A molecular defect in human protoporphyria. 1376018 1992
Entrez Id: 2235
Gene Symbol: FECH
FECH 		0.600 GeneticVariation disease UNIPROT Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. 1755842 1991