MCID: BSL032
MIFTS: 11

Basal Ganglia Calcification, Idiopathic, 4 malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Basal Ganglia Calcification, Idiopathic, 4

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48OMIM, 34MalaCards
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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:48 615007

Aliases & Classifications for Basal Ganglia Calcification, Idiopathic, 4

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48OMIM
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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 48


Related Diseases for Basal Ganglia Calcification, Idiopathic, 4

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Symptoms for Basal Ganglia Calcification, Idiopathic, 4

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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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34MalaCards
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MalaCards organs/tissues related to Basal Ganglia Calcification, Idiopathic, 4:

34
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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65UniProtKB/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:

65
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, 16Gene 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
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