ALSoD: Amyotrophic Lateral Sclerosis Online Genetics Database

ALS ONLINE GENETICS DATABASE

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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS

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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS

Gene	HFE
Other names	HH; HFE1; HLA-H; MGC103790; dJ221C16.10.1
Gene name	HH; HFE1; HLA-H; MGC103790; dJ221C16.10.1
Gene inheritance category	SALS genes
Category	OXIDATIVE STRESS
Chromosome	6p21.3
Background	Oxidative stress is hypothesized to be implicated in neurodegeneration and misregulation of iron induces oxidative stress. Also, abnormal iron levels found in spinal cords of ALS patients
Result	Contradictory results
Total Mutations	0
Total Affected	0

BIOINFORMATICS

Entrez Gene UCSC Browser Protein Structure OMIM Genecards Full Literature ProtScale Sequence Uniprot

iHop Pathway GeneTest ALS review

GeneMANIA AmiGO Gene Wiki Wolfram Alpha Ensembl NCBI WikiGenes Life Science DB(Japan) ALSGene GeneNetwork

KEY PUBLICATIONS (6)

First_Author	Year	Title	Paper
Goodall	2005	Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS	Full_Paper
He	2010	H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China	Full_Paper
Restagno	2007	HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin	Full_Paper
Sutedja	2007	The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population	Full_Paper
Wang	2004	Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences	Full_Paper
Yen	2004	HFE mutations are not strongly associated with sporadic ALS	Full_Paper

GENETIC VARIATIONS

SNP (rs)	Basepair	pvalue	Author	Year	Term	Paper
1799945	26091179	0.001	Goodall	2005	GRCh37	Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS
1800562	26093141	0.02	Goodall	2005	GRCh37	Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS
1799945	26091179	0.55	He	2010	GRCh37	H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China
1799945	26091179	0.94	Restagno	2007	GRCh37	HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin
1800562	26093141		Restagno	2007	GRCh37	HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin
1799945	26091179		Sutedja	2007	GRCh37	The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population
1800562	26093141	0.06	Sutedja	2007	GRCh37	The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population
1800562	26093141	0.73	Sutedja	2007	GRCh37	The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population
1799945	26091179	0.01	Wang	2004	GRCh37	Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences
1799945	26091179	0.19	Wang	2004	GRCh37	Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences
1800562	26093141		Wang	2004	GRCh37	Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences
1799945	26091179	1	Yen	2004	GRCh37	HFE mutations are not strongly associated with sporadic ALS
1800562	26093141		Yen	2004	GRCh37	HFE mutations are not strongly associated with sporadic ALS