MCID: PRK020
MIFTS: 12

Parkinson Disease 6, Early Onset malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases categories

Summaries for Parkinson Disease 6, Early Onset

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Parkinson Disease 6, Early Onset An important gene associated with Parkinson Disease 6, Early Onset is PINK1 (PTEN induced putative kinase 1).

Description from OMIM:48 605909

Aliases & Classifications for Parkinson Disease 6, Early Onset

About this section
Sources:
48OMIM
See all sources

Classifications:



Aliases & Descriptions:

parkinson disease 6, early onset 48


Symptoms for Parkinson Disease 6, Early Onset

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

605909

Clinical features from OMIM:

605909

Drugs & Therapeutics for Parkinson Disease 6, Early Onset

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Parkinson Disease 6, Early Onset

Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 6, Early Onset

Search NIH Clinical Center for Parkinson Disease 6, Early Onset

Search CenterWatch for Parkinson Disease 6, Early Onset

Genetic Tests for Parkinson Disease 6, Early Onset

About this section

Anatomical Context for Parkinson Disease 6, Early Onset

About this section

Animal Models for Parkinson Disease 6, Early Onset or affiliated genes

About this section

Publications for Parkinson Disease 6, Early Onset

About this section

Variations for Parkinson Disease 6, Early Onset

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 6, Early Onset:

65 (show all 23)
id Symbol AA change Variation ID SNP ID
1PINK1p.Gly309AspVAR_018994
2PINK1p.Cys92PheVAR_046568
3PINK1p.Ala168ProVAR_046575
4PINK1p.Pro196LeuVAR_046577
5PINK1p.Ala217AspVAR_046578
6PINK1p.Glu240LysVAR_046581
7PINK1p.Leu268ValVAR_046584
8PINK1p.His271GlnVAR_046585
9PINK1p.Arg279HisVAR_046587
10PINK1p.Thr313MetVAR_046589
11PINK1p.Leu347ProVAR_046593
12PINK1p.Cys388ArgVAR_046596
13PINK1p.Glu417GlyVAR_046599
14PINK1p.Arg464HisVAR_046605
15PINK1p.Leu489ProVAR_046607
16PINK1p.Cys125GlyVAR_062773
17PINK1p.Ala280ThrVAR_062774
18PINK1p.Leu369ProVAR_062775
19PINK1p.Gly386AlaVAR_062776
20PINK1p.Pro399LeuVAR_062777
21PINK1p.Arg407GlnVAR_062778
22PINK1p.Gly409ValVAR_062779
23PINK1p.Gln126ProVAR_064344

Clinvar genetic disease variations for Parkinson Disease 6, Early Onset:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1NM_032409.2(PINK1): c.926G> A (p.Gly309Asp)single nucleotide variantPathogenicrs74315355GRCh37Chr 1, 20971132: 20971132
2NM_032409.2(PINK1): c.813C> A (p.His271Gln)single nucleotide variantPathogenicrs28940284GRCh37Chr 1, 20971019: 20971019
3NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter)single nucleotide variantPathogenicrs74315356GRCh37Chr 1, 20975547: 20975547
4PINK1NM_032409.2(PINK1): c.736C> T (p.Arg246Ter)single nucleotide variantPathogenicrs74315357GRCh37Chr 1, 20966445: 20966445
5NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro)single nucleotide variantPathogenicrs28940285GRCh37Chr 1, 20972133: 20972133
6PINK1PINK1, 4-BP INS, 1573TTAGinsertionPathogenic
7PINK1PINK1, 3-BP INS, 1602CAAinsertionPathogenic
8NM_032409.2(PINK1): c.836G> A (p.Arg279His)single nucleotide variantPathogenicrs74315358GRCh37Chr 1, 20971042: 20971042
9PINK1PINK1, EX6-8DELdeletionPathogenic
10NM_032409.2(PINK1): c.938C> T (p.Thr313Met)single nucleotide variantPathogenicrs74315359GRCh37Chr 1, 20971144: 20971144
11PINK1NM_032409.2(PINK1): c.650C> A (p.Ala217Asp)single nucleotide variantPathogenicrs74315360GRCh37Chr 1, 20964597: 20964597
12NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter)single nucleotide variantPathogenicrs45539432GRCh37Chr 1, 20975602: 20975602

Expression for genes affiliated with Parkinson Disease 6, Early Onset

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Parkinson Disease 6, Early Onset

Search GEO for disease gene expression data for Parkinson Disease 6, Early Onset.

Pathways for genes affiliated with Parkinson Disease 6, Early Onset

About this section

Compounds for genes affiliated with Parkinson Disease 6, Early Onset

About this section

GO Terms for genes affiliated with Parkinson Disease 6, Early Onset

About this section

Products for genes affiliated with Parkinson Disease 6, Early Onset

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease 6, Early Onset

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet