MCID: CMB020

Combined Saposin Deficiency malady

Genetic diseases (common) category
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Summaries for Combined Saposin Deficiency

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Sources:
33MalaCards
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MalaCards: Combined Saposin Deficiency An important gene associated with Combined Saposin Deficiency is PSAP (prosaposin).

Aliases & Classifications for Combined Saposin Deficiency

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Sources:
20GeneTests, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

combined saposin deficiency 20 22 62


Related Diseases for Combined Saposin Deficiency

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Symptoms for Combined Saposin Deficiency

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Drugs & Therapeutics for Combined Saposin Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Combined Saposin Deficiency

Search NIH Clinical Center for Combined Saposin Deficiency

Genetic Tests for Combined Saposin Deficiency

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Combined Saposin Deficiency:

id Genetic test Affiliating Genes
1 Combined Saposin Deficiency20 22 PSAP

Anatomical Context for Combined Saposin Deficiency

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Animal Models for Combined Saposin Deficiency or affiliated genes

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Publications for Combined Saposin Deficiency

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Variations for Combined Saposin Deficiency

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Combined Saposin Deficiency:

1
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 Combined Saposin Deficiency

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Combined Saposin Deficiency

Search GEO for disease gene expression data for Combined Saposin Deficiency.

Pathways for genes affiliated with Combined Saposin Deficiency

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Compounds for genes affiliated with Combined Saposin Deficiency

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GO Terms for genes affiliated with Combined Saposin Deficiency

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Products for genes affiliated with Combined Saposin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Combined Saposin Deficiency

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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