MCID: GM2003

Gm2 Activator Deficiency malady

Genetic diseases (common) category
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Summaries for Gm2 Activator Deficiency

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Sources:
33MalaCards
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MalaCards: Gm2 Activator Deficiency, also known as carbamoyl-phosphate synthase i deficiency disease, 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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20GeneTests, 62UMLS
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Classifications:

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


Aliases & Descriptions:

gm2 activator deficiency 20
carbamoyl-phosphate synthase i deficiency disease 62
tay-sachs disease, ab variant 62


Related Diseases for Gm2 Activator Deficiency

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Sources:
17GeneCards, 18GeneDecks
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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 variant10.2

Symptoms for Gm2 Activator Deficiency

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Drugs & Therapeutics for Gm2 Activator Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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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Sources:
52PubMed
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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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gm2 Activator Deficiency

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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
  • Antibodies

Sources for Gm2 Activator 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