MCID: QRS001
MIFTS: 4

Qrsl1-Related Combined Oxidative Phosphorylation Defect

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Qrsl1-Related Combined Oxidative Phosphorylation Defect

MalaCards integrated aliases for Qrsl1-Related Combined Oxidative Phosphorylation Defect:

Name: Qrsl1-Related Combined Oxidative Phosphorylation Defect 58
Qrsl1-Related Coxpd 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA570491

Summaries for Qrsl1-Related Combined Oxidative Phosphorylation Defect

MalaCards based summary : Qrsl1-Related Combined Oxidative Phosphorylation Defect, is also known as qrsl1-related coxpd. An important gene associated with Qrsl1-Related Combined Oxidative Phosphorylation Defect is QRSL1 (Glutaminyl-TRNA Amidotransferase Subunit QRSL1).

Related Diseases for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Diseases in the C12orf65-Related Combined Oxidative Phosphorylation Defect family:

Qrsl1-Related Combined Oxidative Phosphorylation Defect

Symptoms & Phenotypes for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Drugs & Therapeutics for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Search Clinical Trials , NIH Clinical Center for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Genetic Tests for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Anatomical Context for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Publications for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Variations for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Expression for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Search GEO for disease gene expression data for Qrsl1-Related Combined Oxidative Phosphorylation Defect.

Pathways for Qrsl1-Related Combined Oxidative Phosphorylation Defect

GO Terms for Qrsl1-Related Combined Oxidative Phosphorylation Defect

Sources for Qrsl1-Related Combined Oxidative Phosphorylation Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
43 MeSH
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45 MGI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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