MCID: VTM031
MIFTS: 8

Vitamin B12 Plasma Level Quantitative Trait Locus 1

Categories: Genetic diseases

Aliases & Classifications for Vitamin B12 Plasma Level Quantitative Trait Locus 1

MalaCards integrated aliases for Vitamin B12 Plasma Level Quantitative Trait Locus 1:

Name: Vitamin B12 Plasma Level Quantitative Trait Locus 1 57 29 6 40
B12qtl1 57

Classifications:



External Ids:

OMIM 57 612542

Summaries for Vitamin B12 Plasma Level Quantitative Trait Locus 1

OMIM : 57 The plasma level of vitamin B12 is a modifiable quantitative trait associated with many diseases (Hazra et al., 2008). Vitamin B12 found in meat and milk products is composed of corrin and cobalt rings and is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency. (612542)

MalaCards based summary : Vitamin B12 Plasma Level Quantitative Trait Locus 1, is also known as b12qtl1. An important gene associated with Vitamin B12 Plasma Level Quantitative Trait Locus 1 is FUT2 (Fucosyltransferase 2).

Related Diseases for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Symptoms & Phenotypes for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Clinical features from OMIM:

612542

Drugs & Therapeutics for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Genetic Tests for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Genetic tests related to Vitamin B12 Plasma Level Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Vitamin B12 Plasma Level Quantitative Trait Locus 1 29 FUT2

Anatomical Context for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Publications for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Variations for Vitamin B12 Plasma Level Quantitative Trait Locus 1

ClinVar genetic disease variations for Vitamin B12 Plasma Level Quantitative Trait Locus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUT2 NM_000511.5(FUT2): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs1800028 GRCh38 Chromosome 19, 48703560: 48703560
2 FUT2 NM_000511.5(FUT2): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs1800028 GRCh37 Chromosome 19, 49206817: 49206817

Expression for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Search GEO for disease gene expression data for Vitamin B12 Plasma Level Quantitative Trait Locus 1.

Pathways for Vitamin B12 Plasma Level Quantitative Trait Locus 1

GO Terms for Vitamin B12 Plasma Level Quantitative Trait Locus 1

Sources for Vitamin B12 Plasma Level Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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