MCID: FTL033
MIFTS: 17

Fetal Hemoglobin Quantitative Trait Locus 1 malady

Blood diseases category

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

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48OMIM, 34MalaCards
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MalaCards: Fetal Hemoglobin Quantitative Trait Locus 1 is related to hereditary persistence of fetal hemoglobin and hereditary persistence of fetal hemoglobin - sickle cell disease. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBG1 (hemoglobin, gamma A), and among its related pathways are p70S6K Signaling and ErbB4 Pathway. The compounds hydroxyurea and heme have been mentioned in the context of this disorder.

Description from OMIM:48 141749

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

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48OMIM, 63UMLS
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Classifications:

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


Aliases & Descriptions:

fetal hemoglobin quantitative trait locus 1 48 63


Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

141749

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

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

Search CenterWatch for Fetal Hemoglobin Quantitative Trait Locus 1

Drug clinical trials:

Search ClinicalTrials for Fetal Hemoglobin Quantitative Trait Locus 1

Search NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 1

Search CenterWatch 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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 1:

1
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

Expression for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 54QIAGEN
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Pathways related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HBG2, HBG1
2
Show member pathways
9.1HBG2, HBG1

Compounds for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB
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Compounds related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hydroxyurea46 52 1211.2HBG2, HBG1
2heme30 25 1211.1HBG2, HBG1
3oxygen46 2510.1HBG2, HBG1
4iron46 2510.0HBG1, HBG2
5nitric oxide46 25 1210.8HBG2, HBG1

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

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17Gene Ontology
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Cellular components related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:0058339.1HBG2, HBG1

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1HBG2, HBG1

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

idNameGO IDScoreTop Affiliating Genes
1oxygen transporter activityGO:0053449.1HBG2, HBG1
2iron ion bindingGO:0055069.1HBG2, HBG1
3oxygen bindingGO:0198259.0HBG2, HBG1
4heme bindingGO:0200378.8HBG2, HBG1

Products for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

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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