MCID: GCH010

Gaucher Disease, Atypical, Due to Saposin C Deficiency malady

Genetic diseases (common) category
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Summaries for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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MalaCards based summary: Gaucher Disease, Atypical, Due to Saposin C Deficiency An important gene associated with Gaucher Disease, Atypical, Due to Saposin C Deficiency is PSAP (prosaposin).

Aliases & Classifications for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Gaucher Disease, Atypical, Due to Saposin C Deficiency, Aliases & Descriptions:

Name: Gaucher Disease, Atypical, Due to Saposin C Deficiency 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Symptoms for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Drugs & Therapeutics for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Search NIH Clinical Center for Gaucher Disease, Atypical, Due to Saposin C Deficiency

Genetic Tests for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Genetic tests related to Gaucher Disease, Atypical, Due to Saposin C Deficiency:

id Genetic test Affiliating Genes
1 Gaucher Disease, Atypical, Due to Saposin C Deficiency20 22 PSAP

Anatomical Context for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Animal Models for Gaucher Disease, Atypical, Due to Saposin C Deficiency or affiliated genes

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Publications for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Variations for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Clinvar genetic disease variations for Gaucher Disease, Atypical, Due to Saposin C Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978

Expression for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Expression patterns in normal tissues for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

Search GEO for disease gene expression data for Gaucher Disease, Atypical, Due to Saposin C Deficiency.

Pathways for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Compounds for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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GO Terms for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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Products for genes affiliated with Gaucher Disease, Atypical, Due to Saposin C Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Gaucher Disease, Atypical, Due to Saposin C Deficiency

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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