MCID: MTC015
MIFTS: 2

Mitochondrial Dna-Associated Leigh Syndrome and Narp

Aliases & Classifications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

MalaCards integrated aliases for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

Name: Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 29 6
Mtdna-Associated Leigh Syndromenarp 24

Characteristics:

GeneReviews:

24
Penetrance See genotype-phenotype correlations...

Summaries for Mitochondrial Dna-Associated Leigh Syndrome and Narp

MalaCards based summary : Mitochondrial Dna-Associated Leigh Syndrome and Narp, is also known as mtdna-associated leigh syndromenarp.

GeneReviews: NBK1173

Related Diseases for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Symptoms & Phenotypes for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Drugs & Therapeutics for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Genetic Tests for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Genetic tests related to Mitochondrial Dna-Associated Leigh Syndrome and Narp:

# Genetic test Affiliating Genes
1 Mitochondrial Dna-Associated Leigh Syndrome and Narp 29

Anatomical Context for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Publications for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp

ClinVar genetic disease variations for Mitochondrial Dna-Associated Leigh Syndrome and Narp:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 NC_012920.1: m.8686T> C single nucleotide variant not provided GRCh37 Chromosome MT, 8686: 8686
2 MT-ATP6 NC_012920.1: m.8686T> C single nucleotide variant not provided GRCh38 Chromosome MT, 8686: 8686

Expression for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Search GEO for disease gene expression data for Mitochondrial Dna-Associated Leigh Syndrome and Narp.

Pathways for Mitochondrial Dna-Associated Leigh Syndrome and Narp

GO Terms for Mitochondrial Dna-Associated Leigh Syndrome and Narp

Sources for Mitochondrial Dna-Associated Leigh Syndrome and Narp

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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