MCID: PRK059
MIFTS: 13

Parkinson Disease 8 malady

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

Summaries for Parkinson Disease 8

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

Fully expand this MalaCard

Download this MalaCard
MalaCards: Parkinson Disease 8 is related to lrrk2-related parkinson disease. An important gene associated with Parkinson Disease 8 is LRRK2 (leucine-rich repeat kinase 2).

Description from OMIM:48 607060

Aliases & Classifications for Parkinson Disease 8

About this section
Sources:
48OMIM
See all sources

Classifications:



Aliases & Descriptions:

parkinson disease 8 48


Related Diseases for Parkinson Disease 8

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Symptoms for Parkinson Disease 8

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

607060

Clinical features from OMIM:

607060

Drugs & Therapeutics for Parkinson Disease 8

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

Approved drugs:

Search CenterWatch for Parkinson Disease 8

Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 8

Search NIH Clinical Center for Parkinson Disease 8

Search CenterWatch for Parkinson Disease 8

Genetic Tests for Parkinson Disease 8

About this section

Anatomical Context for Parkinson Disease 8

About this section

Animal Models for Parkinson Disease 8 or affiliated genes

About this section

Publications for Parkinson Disease 8

About this section

Variations for Parkinson Disease 8

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65 (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

Clinvar genetic disease variations for Parkinson Disease 8:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1LRRK2NM_198578.3(LRRK2): c.4321C> G (p.Arg1441Gly)single nucleotide variantPathogenicrs33939927GRCh37Chr 12, 40704236: 40704236
2LRRK2NM_198578.3(LRRK2): c.5096A> G (p.Tyr1699Cys)single nucleotide variantPathogenicrs35801418GRCh37Chr 12, 40714916: 40714916
3LRRK2NM_198578.3(LRRK2): c.4321C> T (p.Arg1441Cys)single nucleotide variantPathogenicrs33939927GRCh37Chr 12, 40704236: 40704236
4LRRK2NM_198578.3(LRRK2): c.3364A> G (p.Ile1122Val)single nucleotide variantPathogenicrs34805604GRCh37Chr 12, 40692927: 40692927
5LRRK2NM_198578.3(LRRK2): c.6055G> A (p.Gly2019Ser)single nucleotide variantPathogenicrs34637584GRCh37Chr 12, 40734202: 40734202
6LRRK2NM_198578.3(LRRK2): c.6059T> C (p.Ile2020Thr)single nucleotide variantPathogenicrs35870237GRCh37Chr 12, 40734206: 40734206
7LRRK2NM_198578.3(LRRK2): c.4322G> A (p.Arg1441His)single nucleotide variantPathogenicrs34995376GRCh37Chr 12, 40704237: 40704237
8LRRK2NM_198578.3(LRRK2): c.7153G> A (p.Gly2385Arg)single nucleotide variantPathogenic, risk factorrs34778348GRCh37Chr 12, 40757328: 40757328
9LRRK2NM_198578.3(LRRK2): c.1256C> T (p.Ala419Val)single nucleotide variantPathogenicrs34594498GRCh37Chr 12, 40646786: 40646786
10LRRK2NM_198578.3(LRRK2): c.2264C> T (p.Pro755Leu)single nucleotide variantPathogenicrs34410987GRCh37Chr 12, 40677699: 40677699
11LRRK2NM_198578.3(LRRK2): c.3342A> G (p.Leu1114=)single nucleotide variantPathogenicrs35808389GRCh37Chr 12, 40692290: 40692290
12LRRK2NM_198578.3(LRRK2): c.4309A> C (p.Asn1437His)single nucleotide variantPathogenicrs74163686GRCh37Chr 12, 40703027: 40703027
13LRRK2NM_198578.3(LRRK2): c.4883G> C (p.Arg1628Pro)single nucleotide variantPathogenicrs33949390GRCh37Chr 12, 40713845: 40713845
14LRRK2NM_198578.3(LRRK2): c.5605A> G (p.Met1869Val)single nucleotide variantPathogenicrs281865052GRCh37Chr 12, 40717057: 40717057
15LRRK2NM_198578.3(LRRK2): c.5620G> T (p.Glu1874Ter)single nucleotide variantPathogenicrs281865054GRCh37Chr 12, 40717072: 40717072

Expression for genes affiliated with Parkinson Disease 8

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Parkinson Disease 8

About this section

GO Terms for genes affiliated with Parkinson Disease 8

About this section

Products for genes affiliated with Parkinson Disease 8

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease 8

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