MCID: PRK088
MIFTS: 16

Parkinson Disease, Mitochondrial

Aliases & Classifications for Parkinson Disease, Mitochondrial

MalaCards integrated aliases for Parkinson Disease, Mitochondrial:

Name: Parkinson Disease, Mitochondrial 58 30 6

External Ids:

OMIM 58 556500

Summaries for Parkinson Disease, Mitochondrial

MalaCards based summary : Parkinson Disease, Mitochondrial is related to parkinson disease, late-onset and leber optic atrophy. An important gene associated with Parkinson Disease, Mitochondrial is MT-TT (Mitochondrially Encoded TRNA-Thr (ACN)), and among its related pathways/superpathways are GABAergic synapse and 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 30 MT-TT

Anatomical Context for Parkinson Disease, Mitochondrial

Publications for Parkinson Disease, Mitochondrial

Articles related to Parkinson Disease, Mitochondrial:

# Title Authors Year
1
The Parkinson Disease Mitochondrial Hypothesis: Where Are We at? ( 25761946 )
2016

Variations for Parkinson Disease, Mitochondrial

ClinVar genetic disease variations for Parkinson Disease, Mitochondrial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDUFV2 NM_021074.4(NDUFV2): c.86T> C (p.Val29Ala) single nucleotide variant Benign rs906807 GRCh37 Chromosome 18, 9117867: 9117867
2 NDUFV2 NM_021074.4(NDUFV2): c.86T> C (p.Val29Ala) single nucleotide variant Benign rs906807 GRCh38 Chromosome 18, 9117869: 9117869
3 MT-TT m.15950G> A single nucleotide variant risk factor rs118203890 GRCh37 Chromosome MT, 15950: 15950
4 MT-TT m.15950G> A single nucleotide variant risk factor rs118203890 GRCh38 Chromosome MT, 15950: 15950
5 MT-TP m.15965A> G single nucleotide variant risk factor rs199474700 GRCh37 Chromosome MT, 15965: 15965
6 MT-TP m.15965A> G single nucleotide variant risk factor rs199474700 GRCh38 Chromosome MT, 15965: 15965
7 MT-TK m.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh37 Chromosome MT, 8344: 8344
8 MT-TK m.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh38 Chromosome MT, 8344: 8344
9 ADH1C NM_000669.4(ADH1C): c.232G> T (p.Gly78Ter) single nucleotide variant risk factor rs283413 GRCh37 Chromosome 4, 100268190: 100268190
10 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
11.32 MT-ND3 MT-ND6 NDUFV2
2
Show member pathways
11.2 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 mitochondrial inner membrane GO:0005743 9.33 MT-ND3 MT-ND6 NDUFV2
2 mitochondrial membrane GO:0031966 9.26 MT-ND3 MT-ND6
3 mitochondrial respiratory chain complex I GO:0005747 8.96 MT-ND3 NDUFV2
4 respiratory chain GO:0070469 8.8 MT-ND3 MT-ND6 NDUFV2

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 9.26 ADH1C MT-ND3 MT-ND6 NDUFV2
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.16 MT-ND3 NDUFV2
3 mitochondrial respiratory chain complex I assembly GO:0032981 8.8 MT-ND3 MT-ND6 NDUFV2

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 9.26 ADH1C MT-ND3 MT-ND6 NDUFV2
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND6 NDUFV2

Sources for Parkinson Disease, Mitochondrial

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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