MCID: FTL033
MIFTS: 21

Fetal Hemoglobin Quantitative Trait Locus 1 malady

Blood diseases category
Download this MalaCard

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

About this section


Fully expand this MalaCard
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

About this section

Fetal Hemoglobin Quantitative Trait Locus 1, Aliases & Descriptions:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 46 62


Classifications:

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


Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

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

About this section


Clinical features from OMIM:

141749

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

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

About this section

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

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

About this section

Publications for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

Variations for Fetal Hemoglobin Quantitative Trait Locus 1

About this section

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

6 (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

About this section
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

About this section

Compounds for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 50PharmGKB, 28IUPHAR
See all sources

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 24 1111.6HBB, HBG1
4propionate449.6HBB, HBG1
55-aminolevulinic acid44 2410.6HBB, HBG1
6neomycin449.6HBB, HBG1
7azathioprine44 2 50 1112.5HBB, 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 2410.4HBG2, HBB
15fatty acid449.3HBG1, HBB
16histidine449.2HBB, HBG2
17h2o2449.1HBB, HBG2
18lactate449.0HBB, HBG2
19leucine449.0HBB, HBG1
20hydroxyurea44 50 1110.9HBB, HBG2, HBG1
21heme28 24 1110.9HBB, HBG2, HBG1
22iron44 249.8HBG1, HBG2, HBB
23nitric oxide44 24 1110.8HBG1, HBG2, HBB
24oxygen44 249.7HBB, HBG2, HBG1

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

About this section

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:0055068.5HBB, HBG2, HBG1
3oxygen bindingGO:0198258.4HBB, HBG2, HBG1
4heme bindingGO:0200378.2HBG1, HBG2, HBB

Products for genes affiliated with Fetal Hemoglobin Quantitative Trait Locus 1

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet