MCID: TYS002
MIFTS: 13

Tay-Sachs Disease Ab Variant malady

Summaries for Tay-Sachs Disease Ab Variant

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46OMIM, 32MalaCards
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MalaCards: Tay-Sachs Disease Ab Variant, also known as tay-sachs disease, variant ab, is related to gm2 activator deficiency and gm2-gangliosidosis, ab variant. An important gene associated with Tay-Sachs Disease Ab Variant is GM2A (GM2 ganglioside activator).

Description from OMIM:46 272750

Aliases & Classifications for Tay-Sachs Disease Ab Variant

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Sources:
8Disease Ontology, 22GTR, 34MeSH, 56SNOMED-CT, 60UMLS, 46OMIM
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Aliases & Descriptions:

tay-sachs disease ab variant 8
tay-sachs disease, variant ab 8 22


External Ids:

Disease Ontology8 DOID:4795
MeSH34 D049290
SNOMED-CT56 71253000
OMIM46 272750

Related Diseases for Tay-Sachs Disease Ab Variant

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17GeneCards, 18GeneDecks
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Diseases in the Tay-Sachs Disease family:

tay-sachs disease ab variant Tay-Sachs Disease, B1 Variant

Diseases related to Tay-Sachs Disease Ab Variant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gm2 activator deficiency10.4
2gm2-gangliosidosis, ab variant10.4

Clinical Features for Tay-Sachs Disease Ab Variant

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Sources:
46OMIM
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Clinical features from OMIM:

272750

Drugs & Therapeutics for Tay-Sachs Disease Ab Variant

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

Search CenterWatch for Tay-Sachs Disease Ab Variant

Drug clinical trials:

Search ClinicalTrials for Tay-Sachs Disease Ab Variant

Search NIH Clinical Center for Tay-Sachs Disease Ab Variant

Search CenterWatch for Tay-Sachs Disease Ab Variant

Genetic Tests for Tay-Sachs Disease Ab Variant

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22GTR
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Genetic tests related to Tay-Sachs Disease Ab Variant:

id Genetic test Affiliating Genes
1 Tay-Sachs Disease, Variant Ab22

Anatomical Context for Tay-Sachs Disease Ab Variant

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Animal Models for Tay-Sachs Disease Ab Variant or affiliated genes

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Publications for Tay-Sachs Disease Ab Variant

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Genetic Variations for Tay-Sachs Disease Ab Variant

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Expression for genes affiliated with Tay-Sachs Disease Ab Variant

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tay-Sachs Disease Ab Variant

Search GEO for disease gene expression data for Tay-Sachs Disease Ab Variant.

Pathways for genes affiliated with Tay-Sachs Disease Ab Variant

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Compounds for genes affiliated with Tay-Sachs Disease Ab Variant

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GO Terms for genes affiliated with Tay-Sachs Disease Ab Variant

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Products for genes affiliated with Tay-Sachs Disease Ab Variant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tay-Sachs Disease Ab Variant

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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