MCID: HFH001
MIFTS: 22

Hfe Hemochromatosis, Modifier of malady

Genetic diseases (common) category

Summaries for Hfe Hemochromatosis, Modifier of

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48OMIM, 34MalaCards
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MalaCards: Hfe Hemochromatosis, Modifier of is related to hfe-associated hereditary hemochromatosis and hemochromatosis. An important gene associated with Hfe Hemochromatosis, Modifier of is BMP2 (bone morphogenetic protein 2). The compounds ascorbic acid and testosterone have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Description from OMIM:48 235200

Aliases & Classifications for Hfe Hemochromatosis, Modifier of

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

hfe hemochromatosis, modifier of 48


Related Diseases for Hfe Hemochromatosis, Modifier of

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Hfe Hemochromatosis, Modifier of via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1hfe-associated hereditary hemochromatosis10.1HFE
2hemochromatosis10.0BMP2, HFE
3arthropathy10.0BMP2, HFE
4diabetic nephropathy10.0BMP2, HFE
5factor v leiden thrombophilia10.0BMP2, HFE
6osteoarthritis10.0BMP2, HFE
7arthritis10.0HFE, BMP2
8diabetes mellitus10.0BMP2, HFE
9ovarian cancer10.0BMP2, HFE
10leukemia10.0BMP2, HFE
11rheumatoid arthritis10.0BMP2, HFE
12prostate cancer9.9BMP2, HFE

Graphical network of diseases related to Hfe Hemochromatosis, Modifier of:



Diseases related to hfe hemochromatosis, modifier of

Symptoms for Hfe Hemochromatosis, Modifier of

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48OMIM
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Clinical features from OMIM:

235200

Drugs & Therapeutics for Hfe Hemochromatosis, Modifier of

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hfe Hemochromatosis, Modifier of

Drug clinical trials:

Search ClinicalTrials for Hfe Hemochromatosis, Modifier of

Search NIH Clinical Center for Hfe Hemochromatosis, Modifier of

Search CenterWatch for Hfe Hemochromatosis, Modifier of

Genetic Tests for Hfe Hemochromatosis, Modifier of

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Anatomical Context for Hfe Hemochromatosis, Modifier of

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Animal Models for Hfe Hemochromatosis, Modifier of or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Hfe Hemochromatosis, Modifier of:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1HFE, BMP2
2MP:00053718.8HFE, BMP2

Publications for Hfe Hemochromatosis, Modifier of

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Variations for Hfe Hemochromatosis, Modifier of

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hfe Hemochromatosis, Modifier of:

65 (show all 12)
id Symbol AA change Variation ID SNP ID
1HFEp.Ser65CysVAR_004397rs1800730
2HFEp.Cys282TyrVAR_004398rs1800562
3HFEp.Gln127HisVAR_008113rs28934595
4HFEp.Arg330MetVAR_008114
5HFEp.Gly93ArgVAR_008729rs28934597
6HFEp.Ile105ThrVAR_008730rs28934596
7HFEp.Gln283ProVAR_037304
8HFEp.Arg6SerVAR_042506
9HFEp.Gly43AspVAR_042507
10HFEp.Arg66CysVAR_042508
11HFEp.Arg224GlyVAR_042510
12HFEp.Val295AlaVAR_042511rs143175221

Clinvar genetic disease variations for Hfe Hemochromatosis, Modifier of:

1
id Gene Name Type Significance SNP ID Assembly Location
1HFENM_000410.3(HFE): c.187C> G (p.His63Asp)single nucleotide variantLikely benign, Likely pathogenic, Pathogenic, Uncertain significance, association, confers sensitivity, risk factorrs1799945GRCh37Chr 6, 26091179: 26091179
2HFENM_000410.3(HFE): c.193A> T (p.Ser65Cys)single nucleotide variantPathogenic, risk factorrs1800730GRCh37Chr 6, 26091185: 26091185
3HFENM_000410.3(HFE): c.314T> C (p.Ile105Thr)single nucleotide variantPathogenicrs28934596GRCh37Chr 6, 26091306: 26091306
4HFENM_000410.3(HFE): c.277G> C (p.Gly93Arg)single nucleotide variantPathogenicrs28934597GRCh37Chr 6, 26091269: 26091269
5HFENM_000410.3(HFE): c.381A> C (p.Gln127His)single nucleotide variantPathogenicrs28934595GRCh37Chr 6, 26091582: 26091582
6HFENM_000410.3(HFE): c.989G> T (p.Arg330Met)single nucleotide variantPathogenicrs111033558GRCh37Chr 6, 26093443: 26093443
7HFENM_000410.3(HFE): c.848A> C (p.Gln283Pro)single nucleotide variantPathogenicrs111033563GRCh37Chr 6, 26093144: 26093144
8HFE2NM_213653.3(HFE2): c.959G> T (p.Gly320Val)single nucleotide variantPathogenicrs74315323GRCh37Chr 1, 145416614: 145416614
9HFE2NM_213653.3(HFE2): c.963C> A (p.Cys321Ter)single nucleotide variantPathogenicrs121434374GRCh37Chr 1, 145416618: 145416618
10HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantBenign, Pathogenic, association, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Hfe Hemochromatosis, Modifier of

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hfe Hemochromatosis, Modifier of

Search GEO for disease gene expression data for Hfe Hemochromatosis, Modifier of.

Pathways for genes affiliated with Hfe Hemochromatosis, Modifier of

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Compounds for genes affiliated with Hfe Hemochromatosis, Modifier of

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Sources:
46Novoseek, 25HMDB, 62Tocris Bioscience, 12DrugBank, 30IUPHAR
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Compounds related to Hfe Hemochromatosis, Modifier of according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ascorbic acid46 2510.3HFE, BMP2
2testosterone46 62 25 1212.3HFE, BMP2
3cholesterol46 30 25 1212.3HFE, BMP2
4oligonucleotide469.2HFE, BMP2
5alanine469.2BMP2, HFE
6estrogen469.1HFE, BMP2
7lipid469.1HFE, BMP2
8cysteine469.0HFE, BMP2
9glucose468.8HFE, BMP2

GO Terms for genes affiliated with Hfe Hemochromatosis, Modifier of

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Sources:
17Gene Ontology
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Molecular functions related to Hfe Hemochromatosis, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.1HFE, BMP2

Products for genes affiliated with Hfe Hemochromatosis, Modifier of

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hfe Hemochromatosis, Modifier of

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet