MCID: PRK059
MIFTS: 13

Parkinson Disease 8 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases categories
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Summaries for Parkinson Disease 8

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MalaCards based summary: Parkinson Disease 8 is related to lrrk2-related parkinson disease, and has symptoms including An important gene associated with Parkinson Disease 8 is LRRK2 (leucine-rich repeat kinase 2).

Description from OMIM:46 607060

Aliases & Classifications for Parkinson Disease 8

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Parkinson Disease 8, Aliases & Descriptions:

Name: Parkinson Disease 8 46 62


Classifications:



Related Diseases for Parkinson Disease 8

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Symptoms for Parkinson Disease 8

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Symptoms by clinical synopsis from OMIM:

607060

Clinical features from OMIM:

607060

HPO human phenotypes related to Parkinson Disease 8:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dementia HP:0000726
3 rigidity HP:0002063
4 bradykinesia HP:0002067
5 postural instability HP:0002172
6 resting tremor HP:0002322
7 parkinsonism with favorable response to dopaminergic medication HP:0002548
8 slow progression HP:0003677
9 incomplete penetrance HP:0003829
10 hyposmia HP:0004409
11 substantia nigra gliosis HP:0011960

Drugs & Therapeutics for Parkinson Disease 8

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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 8

Search NIH Clinical Center for Parkinson Disease 8

Genetic Tests for Parkinson Disease 8

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Anatomical Context for Parkinson Disease 8

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Animal Models for Parkinson Disease 8 or affiliated genes

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Publications for Parkinson Disease 8

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Variations for Parkinson Disease 8

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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 8:

64 (show all 21)
id Symbol AA change Variation ID SNP ID
1LRRK2p.Arg1067GlnVAR_024938
2LRRK2p.Ile1122ValVAR_024940rs34805604
3LRRK2p.Ser1228ThrVAR_024941
4LRRK2p.Arg1441GlyVAR_024946rs33939927
5LRRK2p.Arg1441HisVAR_024947rs34995376
6LRRK2p.Arg1514GlnVAR_024948rs35507033
7LRRK2p.Pro1542SerVAR_024949rs33958906
8LRRK2p.Val1598GluVAR_024950rs721710
9LRRK2p.Tyr1699CysVAR_024954rs35801418
10LRRK2p.Met1869ThrVAR_024955rs35602796
11LRRK2p.Arg1941HisVAR_024956
12LRRK2p.Ile2012ThrVAR_024957rs34015634
13LRRK2p.Gly2019SerVAR_024958rs34637584
14LRRK2p.Ile2020ThrVAR_024959rs35870237
15LRRK2p.Thr2356IleVAR_024963
16LRRK2p.Met712ValVAR_054741
17LRRK2p.Arg1728HisVAR_054744
18LRRK2p.Arg1728LeuVAR_054745
19LRRK2p.Thr2141MetVAR_054747
20LRRK2p.Arg2143HisVAR_054748
21LRRK2p.Leu2466HisVAR_054750

Expression for genes affiliated with Parkinson Disease 8

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Expression patterns in normal tissues for genes affiliated with Parkinson Disease 8

Search GEO for disease gene expression data for Parkinson Disease 8.

Pathways for genes affiliated with Parkinson Disease 8

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Compounds for genes affiliated with Parkinson Disease 8

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GO Terms for genes affiliated with Parkinson Disease 8

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Products for genes affiliated with Parkinson Disease 8

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  • Antibodies
  • Proteins
  • Lysates

Sources for Parkinson Disease 8

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet