MCID: TRN072
MIFTS: 8

Transferrin Serum Level Quantitative Trait Locus 2

Categories: Genetic diseases

Aliases & Classifications for Transferrin Serum Level Quantitative Trait Locus 2

MalaCards integrated aliases for Transferrin Serum Level Quantitative Trait Locus 2:

Name: Transferrin Serum Level Quantitative Trait Locus 2 58 30 6
Transferrin Serum Level, Quantitative Trait Locus 2 41
Transferrin Serum Level Qtl2 58
Tfqtl2 58

Classifications:



External Ids:

OMIM 58 614193

Summaries for Transferrin Serum Level Quantitative Trait Locus 2

MalaCards based summary : Transferrin Serum Level Quantitative Trait Locus 2, is also known as transferrin serum level, quantitative trait locus 2. An important gene associated with Transferrin Serum Level Quantitative Trait Locus 2 is HFE (Homeostatic Iron Regulator).

Description from OMIM: 614193

Related Diseases for Transferrin Serum Level Quantitative Trait Locus 2

Symptoms & Phenotypes for Transferrin Serum Level Quantitative Trait Locus 2

Clinical features from OMIM:

614193

Drugs & Therapeutics for Transferrin Serum Level Quantitative Trait Locus 2

Search Clinical Trials , NIH Clinical Center for Transferrin Serum Level Quantitative Trait Locus 2

Genetic Tests for Transferrin Serum Level Quantitative Trait Locus 2

Genetic tests related to Transferrin Serum Level Quantitative Trait Locus 2:

# Genetic test Affiliating Genes
1 Transferrin Serum Level Quantitative Trait Locus 2 30 HFE

Anatomical Context for Transferrin Serum Level Quantitative Trait Locus 2

Publications for Transferrin Serum Level Quantitative Trait Locus 2

Variations for Transferrin Serum Level Quantitative Trait Locus 2

ClinVar genetic disease variations for Transferrin Serum Level Quantitative Trait Locus 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh37 Chromosome 6, 26093141: 26093141
2 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh38 Chromosome 6, 26092913: 26092913

Expression for Transferrin Serum Level Quantitative Trait Locus 2

Search GEO for disease gene expression data for Transferrin Serum Level Quantitative Trait Locus 2.

Pathways for Transferrin Serum Level Quantitative Trait Locus 2

GO Terms for Transferrin Serum Level Quantitative Trait Locus 2

Sources for Transferrin Serum Level Quantitative Trait Locus 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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