MCID: FTL033
MIFTS: 21

Fetal Hemoglobin Quantitative Trait Locus 1 malady

Blood diseases category

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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MalaCards based summary: Fetal Hemoglobin Quantitative Trait Locus 1 is related to hereditary persistence of fetal hemoglobin - sickle cell disease and hereditary persistence of fetal hemoglobin. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBG1 (hemoglobin, gamma A), and among its related pathways are Factors involved in megakaryocyte development and platelet production and Hemostasis. The compounds dimethyl sulfate and benzidine have been mentioned in the context of this disorder.

Description from OMIM:46 141749

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

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Fetal Hemoglobin Quantitative Trait Locus 1, Aliases & Descriptions:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 46 61


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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Graphical network of diseases related to Fetal Hemoglobin Quantitative Trait Locus 1:



Diseases related to fetal hemoglobin quantitative trait locus 1

Symptoms for Fetal Hemoglobin Quantitative Trait Locus 1

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Clinical features from OMIM:

141749

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

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Drug clinical trials:

Search ClinicalTrials for Fetal Hemoglobin Quantitative Trait Locus 1

Search NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 1

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

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Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

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Animal Models for Fetal Hemoglobin Quantitative Trait Locus 1 or affiliated genes

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Publications for Fetal Hemoglobin Quantitative Trait Locus 1

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Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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Clinvar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 1:

7 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1HBG2NM_000184.2(HBG2): c.-255C> Gsingle nucleotide variantPathogenicrs35617911GRCh37Chr 11, 5276213: 5276213
2HBG2NM_000184.2(HBG2): c.-228T> Csingle nucleotide variantPathogenicrs63750654GRCh37Chr 11, 5276186: 5276186
3HBG2NM_000184.2(HBG2): c.-167C> Tsingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
4HBG2NM_000184.2(HBG2): c.-167C> Asingle nucleotide variantPathogenicrs34809449GRCh37Chr 11, 5276125: 5276125
5HBG1NM_000559.2(HBG1): c.-170G> Asingle nucleotide variantPathogenicrs35378915GRCh37Chr 11, 5271204: 5271204
6HBG1NM_000559.2(HBG1): c.-251T> Csingle nucleotide variantPathogenicrs35710727GRCh37Chr 11, 5271285: 5271285
7HBG1NM_000559.2(HBG1): c.-53-196C> Tsingle nucleotide variantPathogenicrs35983258GRCh37Chr 11, 5271283: 5271283
8HBG1NM_000559.2(HBG1): c.-53-195C> Gsingle nucleotide variantPathogenicrs35321913GRCh37Chr 11, 5271282: 5271282
9HBG1NM_000559.2(HBG1): c.-167C> Tsingle nucleotide variantPathogenicrs281860601GRCh37Chr 11, 5271201: 5271201
10HBG1HBG1, C-T, -158single nucleotide variantPathogenic
11HBBHBB, 106-KB DELdeletionPathogenic
12HBG2HBG2, T-G, -567single nucleotide variantPathogenic

Expression for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Expression patterns in normal tissues for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 1.

Pathways for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Compounds for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Sources:
44Novoseek, 25HMDB, 12DrugBank, 3BitterDB, 50PharmGKB, 29IUPHAR
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Compounds related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1dimethyl sulfate449.7HBG1, HBB
2benzidine449.7HBB, HBG1
3porphobilinogen44 25 1211.6HBB, HBG1
4propionate449.6HBB, HBG1
55-aminolevulinic acid44 2510.6HBB, HBG1
6neomycin449.6HBB, HBG1
7azathioprine44 3 50 1212.5HBB, HBG1
8glyceraldehyde 3-phosphate449.5HBB, HBG1
9de-oxy449.5HBB, HBG2
10s-nitrosocysteine449.5HBG2, HBB
11polyacrylamide449.5HBG1, HBB
1223-diphosphoglycerate449.5HBB, HBG2
13butyrate449.4HBB, HBG1
14glucose 6-phosphate44 2510.4HBG2, HBB
15fatty acid449.3HBG1, HBB
16histidine449.2HBB, HBG2
17h2o2449.1HBB, HBG2
18lactate449.0HBB, HBG2
19leucine449.0HBB, HBG1
20hydroxyurea44 50 1210.9HBB, HBG2, HBG1
21heme29 25 1210.9HBB, HBG2, HBG1
22iron44 259.8HBG1, HBG2, HBB
23nitric oxide44 25 1210.8HBG1, HBG2, HBB
24oxygen44 259.7HBB, HBG2, HBG1

GO Terms for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Cellular components related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.8HBB, HBG2
2cytosolGO:0058298.5HBB, HBG2, HBG1
3hemoglobin complexGO:0058338.4HBB, HBG2, HBG1

Biological processes related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075968.5HBB, HBG2, HBG1

Molecular functions related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:0053448.5HBB, HBG2, HBG1
2iron ion bindingGO:0055068.5HBG1, HBG2, HBB
3oxygen bindingGO:0198258.4HBG1, HBG2, HBB
4heme bindingGO:0200378.2HBB, HBG2, HBG1

Products for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet