MCID: PRK008
MIFTS: 17

Parkinson Disease Type 9 malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Metabolic diseases, Cancer diseases, Cardiovascular diseases categories

Aliases & Classifications for Parkinson Disease Type 9

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Aliases & Descriptions for Parkinson Disease Type 9:

Name: Parkinson Disease Type 9 42 22
Kufor-Rakeb Syndrome 42 61
Cln12 Disease 42 20
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis, and Dementia 42
Autosomal Recessive Parkinson Disease 9 42
 
Parkinsonim Due to Atp13a2 Deficiency 42
Park 9 42
Park9 42
Krppd 42


Classifications:



Summaries for Parkinson Disease Type 9

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MalaCards based summary: Parkinson Disease Type 9, also known as kufor-rakeb syndrome, is related to kufor-rakeb syndrome and parkinson disease, late-onset. An important gene associated with Parkinson Disease Type 9 is ATP13A2 (ATPase type 13A2).

Related Diseases for Parkinson Disease Type 9

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Graphical network of diseases related to Parkinson Disease Type 9:



Diseases related to parkinson disease type 9

Symptoms for Parkinson Disease Type 9

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Drugs & Therapeutics for Parkinson Disease Type 9

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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease Type 9

Search NIH Clinical Center for Parkinson Disease Type 9

Genetic Tests for Parkinson Disease Type 9

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Genetic tests related to Parkinson Disease Type 9:

id Genetic test Affiliating Genes
1 Cln12 Disease20
2 Parkinson Disease 922

Anatomical Context for Parkinson Disease Type 9

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Animal Models for Parkinson Disease Type 9 or affiliated genes

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Publications for Parkinson Disease Type 9

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Variations for Parkinson Disease Type 9

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Clinvar genetic disease variations for Parkinson Disease Type 9:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP13A2NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg)single nucleotide variantPathogenicrs121918227GRCh37Chr 1, 17322503: 17322503
2ATP13A2NM_022089.3(ATP13A2): c.490C> T (p.Arg164Trp)single nucleotide variantPathogenicGRCh37Chr 1, 17330894: 17330894
3ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicGRCh37Chr 1, 17316242: 17316243
4ATP13A2NM_001141974.2(ATP13A2): c.2429T> G (p.Met810Arg)single nucleotide variantPathogenicGRCh37Chr 1, 17316234: 17316234

Expression for genes affiliated with Parkinson Disease Type 9

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Search GEO for disease gene expression data for Parkinson Disease Type 9.

Pathways for genes affiliated with Parkinson Disease Type 9

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Compounds for genes affiliated with Parkinson Disease Type 9

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GO Terms for genes affiliated with Parkinson Disease Type 9

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Sources for Parkinson Disease Type 9

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet