MCID: PRK088
MIFTS: 13

Parkinson Disease, Mitochondrial

Aliases & Classifications for Parkinson Disease, Mitochondrial

MalaCards integrated aliases for Parkinson Disease, Mitochondrial:

Name: Parkinson Disease, Mitochondrial 57 29 6

External Ids:

OMIM 57 556500

Summaries for Parkinson Disease, Mitochondrial

MalaCards based summary : Parkinson Disease, Mitochondrial is related to mitochondrial complex i deficiency and mitochondrial myopathy, infantile, transient. An important gene associated with Parkinson Disease, Mitochondrial is MT-TT (Mitochondrially Encoded TRNA Threonine), and among its related pathways/superpathways is tRNA Aminoacylation.

Description from OMIM: 556500

Related Diseases for Parkinson Disease, Mitochondrial

Graphical network of the top 20 diseases related to Parkinson Disease, Mitochondrial:



Diseases related to Parkinson Disease, Mitochondrial

Symptoms & Phenotypes for Parkinson Disease, Mitochondrial

Clinical features from OMIM:

556500

Drugs & Therapeutics for Parkinson Disease, Mitochondrial

Search Clinical Trials , NIH Clinical Center for Parkinson Disease, Mitochondrial

Genetic Tests for Parkinson Disease, Mitochondrial

Genetic tests related to Parkinson Disease, Mitochondrial:

# Genetic test Affiliating Genes
1 Parkinson Disease, Mitochondrial 29 MT-TT

Anatomical Context for Parkinson Disease, Mitochondrial

Publications for Parkinson Disease, Mitochondrial

Variations for Parkinson Disease, Mitochondrial

ClinVar genetic disease variations for Parkinson Disease, Mitochondrial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TT m.15950G> A single nucleotide variant risk factor rs118203890 GRCh37 Chromosome MT, 15950: 15950
2 MT-TT m.15950G> A single nucleotide variant risk factor rs118203890 GRCh38 Chromosome MT, 15950: 15950
3 MT-TP m.15965A> G single nucleotide variant risk factor rs199474700 GRCh37 Chromosome MT, 15965: 15965
4 MT-TP m.15965A> G single nucleotide variant risk factor rs199474700 GRCh38 Chromosome MT, 15965: 15965
5 ADH1C NM_000669.4(ADH1C): c.232G> T (p.Gly78Ter) single nucleotide variant risk factor rs283413 GRCh37 Chromosome 4, 100268190: 100268190
6 ADH1C NM_000669.4(ADH1C): c.232G> T (p.Gly78Ter) single nucleotide variant risk factor rs283413 GRCh38 Chromosome 4, 99347033: 99347033

Expression for Parkinson Disease, Mitochondrial

Search GEO for disease gene expression data for Parkinson Disease, Mitochondrial.

Pathways for Parkinson Disease, Mitochondrial

Pathways related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 MT-TP MT-TT

GO Terms for Parkinson Disease, Mitochondrial

Cellular components related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 8.62 MT-CYB MT-ND6

Biological processes related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.8 ADH1C MT-CYB MT-ND6

Molecular functions related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.8 ADH1C MT-CYB MT-ND6

Sources for Parkinson Disease, Mitochondrial

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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