MCID: ASP035
MIFTS: 8

Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1

Categories: Genetic diseases

Aliases & Classifications for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

MalaCards integrated aliases for Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1:

Name: Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1 58 30 6 41
Aspartate Aminotransferase, Serum Level of, Qtl1 58 13
Astqtl1 58

Classifications:



External Ids:

OMIM 58 614419

Summaries for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

MalaCards based summary : Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1, is also known as aspartate aminotransferase, serum level of, qtl1. An important gene associated with Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1 is GOT1 (Glutamic-Oxaloacetic Transaminase 1).

Description from OMIM: 614419

Related Diseases for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Symptoms & Phenotypes for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Clinical features from OMIM:

614419

Drugs & Therapeutics for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Search Clinical Trials , NIH Clinical Center for Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1

Genetic Tests for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Genetic tests related to Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1 30 GOT1

Anatomical Context for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Publications for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Articles related to Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1:

# Title Authors Year
1
Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels. ( 21900944 )
2011

Variations for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

ClinVar genetic disease variations for Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GOT1 GOT1, 3-BP DEL, 1165AAC deletion Pathogenic

Expression for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Search GEO for disease gene expression data for Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1.

Pathways for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

GO Terms for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

Sources for Aspartate Aminotransferase, Serum Level of, Quantitative Trait...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
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33 HPO
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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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