DisGeNET - a database of gene-disease associations

FECH, ferrochelatase, 2235

N. diseases: 88; N. variants: 25

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

17196862

2007

dbSNP:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

17196862

2007

dbSNP:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

17196862

2007

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.

15286165

2004

dbSNP:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.

15286165

2004

dbSNP:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.

15286165

2004

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

12601550

2003

dbSNP:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

12601550

2003

dbSNP:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

12601550

2003

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.

12063482

2002

dbSNP:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.

12063482

2002

dbSNP:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.

12063482

2002

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

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:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

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:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

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:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

10942404

2000

dbSNP:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

10942404

2000

dbSNP:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

10942404

2000

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

9740232

1998

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

9585598

1998

dbSNP:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

9585598

1998

dbSNP:

rs118204040

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

9740232

1998

dbSNP:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

9740232

1998

dbSNP:

rs150146721

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

9585598

1998

dbSNP:

rs118204039

Entrez Id:	2235
Gene Symbol:	FECH

FECH

CUI:	C4692546
Disease:

PROTOPORPHYRIA, ERYTHROPOIETIC, 1

0.800

GeneticVariation

UNIPROT

Erythropoietic protoporphyria.

9211198

1997