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 25 30 6
Mtdna-Associated Leigh Syndromenarp 25

Characteristics:

GeneReviews:

25
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 30

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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