MCID: CMB020

Combined Saposin Deficiency malady

Genetic diseases (common) category
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Summaries for Combined Saposin Deficiency

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MalaCards based summary: Combined Saposin Deficiency is related to combined sap deficiency. An important gene associated with Combined Saposin Deficiency is PSAP (prosaposin).

Aliases & Classifications for Combined Saposin Deficiency

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Combined Saposin Deficiency, Aliases & Descriptions:

Name: Combined Saposin Deficiency 20 22 62


Classifications:

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


Related Diseases for Combined Saposin Deficiency

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Diseases related to Combined Saposin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1combined sap deficiency10.2

Symptoms for Combined Saposin Deficiency

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Drugs & Therapeutics for Combined Saposin Deficiency

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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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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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Clinvar genetic disease variations for Combined Saposin 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 Combined Saposin Deficiency

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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

Sources for Combined Saposin 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