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 57 29 6 39
Aspartate Aminotransferase, Serum Level of, Qtl1 57 13
Astqtl1 57

Classifications:



External Ids:

OMIM® 57 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).

More information 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 (Updated 20-May-2021)

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 29 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 PMID Year
1
Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels. 6 57
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 Name Type Significance ClinVarId dbSNP ID Position
1 GOT1 NM_002079.3(GOT1):c.1165_1167del (p.Asn389del) Deletion Pathogenic 29724 rs749913156 GRCh37: 10:101157379-101157381
GRCh38: 10:99397622-99397624

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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