MCID: GM2003

Gm2 Activator Deficiency malady

Summaries for Gm2 Activator Deficiency

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32MalaCards
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MalaCards: Gm2 Activator Deficiency, also known as carbamoyl-phosphate synthase i deficiency disease, is related to carbamoyl phosphate synthetase i deficiency disease and tay-sachs disease 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, 60UMLS
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Aliases & Descriptions:

gm2 activator deficiency 20
carbamoyl-phosphate synthase i deficiency disease 60
tay-sachs disease, ab variant 60


Related Diseases for Gm2 Activator Deficiency

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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
1carbamoyl phosphate synthetase i deficiency disease10.6
2tay-sachs disease ab variant10.6
3tangier disease10.4
4selective igm deficiency disease10.4
5phenylketonuria10.4
6choline deficiency disease10.4
7selective igg deficiency disease10.4
8gm2-gangliosidosis, ab variant10.2

Graphical network of diseases related to Gm2 Activator Deficiency:



Diseases related to gm2 activator deficiency

Clinical Features for Gm2 Activator Deficiency

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Drugs & Therapeutics for Gm2 Activator Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Gm2 Activator Deficiency

Search CenterWatch 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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Genetic Variations for Gm2 Activator Deficiency

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Expression for genes affiliated with Gm2 Activator Deficiency

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Sources:
1BioGPS, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet