MCID: BSL032
MIFTS: 11

Basal Ganglia Calcification, Idiopathic, 4 malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Basal Ganglia Calcification, Idiopathic, 4

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47OMIM, 33MalaCards
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MalaCards: Basal Ganglia Calcification, Idiopathic, 4 An important gene associated with Basal Ganglia Calcification, Idiopathic, 4 is PDGFRB (platelet-derived growth factor receptor, beta polypeptide). Affiliated tissues include brain.

Description from OMIM:47 615007

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

basal ganglia calcification, idiopathic, 4 47


Related Diseases for Basal Ganglia Calcification, Idiopathic, 4

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Symptoms for Basal Ganglia Calcification, Idiopathic, 4

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47OMIM
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Symptoms by clinical synopsis from OMIM:

615007

Clinical features from OMIM:

615007

Drugs & Therapeutics for Basal Ganglia Calcification, Idiopathic, 4

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Basal Ganglia Calcification, Idiopathic, 4

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Anatomical Context for Basal Ganglia Calcification, Idiopathic, 4

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33MalaCards
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MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 4:

33
Brain

Animal Models for Basal Ganglia Calcification, Idiopathic, 4 or affiliated genes

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Publications for Basal Ganglia Calcification, Idiopathic, 4

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Variations for Basal Ganglia Calcification, Idiopathic, 4

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

64
id Symbol AA change Variation ID SNP ID
1PDGFRBp.Leu658ProVAR_069320
2PDGFRBp.Arg987TrpVAR_069321

Clinvar genetic disease variations for Basal Ganglia Calcification, Idiopathic, 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1PDGFRBNM_002609.3(PDGFRB): c.1973T> C (p.Leu658Pro)single nucleotide variantPathogenicrs397509381GRCh37Chr 5, 149503863: 149503863
2PDGFRBNM_002609.3(PDGFRB): c.2959C> T (p.Arg987Trp)single nucleotide variantPathogenicrs397509382GRCh37Chr 5, 149497359: 149497359

Expression for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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Pathways for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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Compounds for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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GO Terms for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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Products for genes affiliated with Basal Ganglia Calcification, Idiopathic, 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Basal Ganglia Calcification, Idiopathic, 4

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet