MCID: GM2003

Gm2 Activator Deficiency malady

Genetic diseases (common) category
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Summaries for Gm2 Activator Deficiency

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MalaCards based summary: Gm2 Activator Deficiency, also known as tay-sachs disease, ab variant, is related to gm2-gangliosidosis, ab variant. An important gene associated with Gm2 Activator Deficiency is GM2A (GM2 ganglioside activator).

Aliases & Classifications for Gm2 Activator Deficiency

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Gm2 Activator Deficiency, Aliases & Descriptions:

Name: Gm2 Activator Deficiency 20
 
Tay-Sachs Disease, Ab Variant 62


Classifications:

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


Related Diseases for Gm2 Activator Deficiency

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Diseases related to Gm2 Activator Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gm2-gangliosidosis, ab variant10.4

Symptoms for Gm2 Activator Deficiency

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Drugs & Therapeutics for Gm2 Activator Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Gm2 Activator Deficiency

Genetic Tests for Gm2 Activator Deficiency

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Genetic tests related to Gm2 Activator Deficiency:

id Genetic test Affiliating Genes
1 Gm2 Activator Deficiency20 GM2A

Anatomical Context for Gm2 Activator Deficiency

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Animal Models for Gm2 Activator Deficiency or affiliated genes

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Publications for Gm2 Activator Deficiency

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Articles related to Gm2 Activator Deficiency:

idTitleAuthorsYear
1
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. (9223328)
1997

Variations for Gm2 Activator Deficiency

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Expression for genes affiliated with Gm2 Activator Deficiency

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Expression patterns in normal tissues for genes affiliated with Gm2 Activator Deficiency

Search GEO for disease gene expression data for Gm2 Activator Deficiency.

Pathways for genes affiliated with Gm2 Activator Deficiency

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Compounds for genes affiliated with Gm2 Activator Deficiency

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GO Terms for genes affiliated with Gm2 Activator Deficiency

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Products for genes affiliated with Gm2 Activator Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Gm2 Activator 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