MCID: PRK020
MIFTS: 12

Parkinson Disease 6, Early Onset malady

Ear diseases category

Summaries for Parkinson Disease 6, Early Onset

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46OMIM, 32MalaCards
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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:46 605909

Aliases & Classifications for Parkinson Disease 6, Early Onset

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46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

parkinson disease 6, early onset 46


Clinical Features for Parkinson Disease 6, Early Onset

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Sources:
46OMIM
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Clinical features from OMIM:

605909

Clinical synopsis from OMIM:

605909

Drugs & Therapeutics for Parkinson Disease 6, Early Onset

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Parkinson Disease 6, Early Onset

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Anatomical Context for Parkinson Disease 6, Early Onset

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

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Publications for Parkinson Disease 6, Early Onset

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Genetic Variations for Parkinson Disease 6, Early Onset

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Parkinson Disease 6, Early Onset:

62 (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

Expression for genes affiliated with Parkinson Disease 6, Early Onset

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parkinson Disease 6, Early Onset

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Pathways for genes affiliated with Parkinson Disease 6, Early Onset

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Compounds for genes affiliated with Parkinson Disease 6, Early Onset

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

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Products for genes affiliated with Parkinson Disease 6, Early Onset

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease 6, Early Onset

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet