MCID: TYS005
MIFTS: 10

Tay-Sachs Disease, B1 Variant malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

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Sources:
47Orphanet, 26ICD10 via Orphanet
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Tay-Sachs Disease, B1 Variant, Aliases & Descriptions:

Name: Tay-Sachs Disease, B1 Variant 47
Hexosaminidase a Deficiency, B1 Variant 47
 
Gm2-Gangliosidosis, B1 Variant 47


Classifications:



External Ids:

Orphanet47 309239
ICD10 via Orphanet26 E75.0

Summaries for Tay-Sachs Disease, B1 Variant

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MalaCards based summary: Tay-Sachs Disease, B1 Variant, also known as hexosaminidase a deficiency, b1 variant, is related to tay-sachs disease. An important gene associated with Tay-Sachs Disease, B1 Variant is HEXA (hexosaminidase A (alpha polypeptide)).

Related Diseases for Tay-Sachs Disease, B1 Variant

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Diseases in the Tay-Sachs Disease family:

Tay-Sachs Disease Ab Variant Tay-Sachs Disease, B Variant, Juvenile Form
Tay-Sachs Disease, B Variant, Infantile Form tay-sachs disease, b1 variant
Tay-Sachs Disease, B Variant, Adult Form

Diseases related to Tay-Sachs Disease, B1 Variant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tay-sachs disease10.5

Symptoms for Tay-Sachs Disease, B1 Variant

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Drugs & Therapeutics for Tay-Sachs Disease, B1 Variant

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Drug clinical trials:

Search ClinicalTrials for Tay-Sachs Disease, B1 Variant

Search NIH Clinical Center for Tay-Sachs Disease, B1 Variant

Genetic Tests for Tay-Sachs Disease, B1 Variant

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Anatomical Context for Tay-Sachs Disease, B1 Variant

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Animal Models for Tay-Sachs Disease, B1 Variant or affiliated genes

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Publications for Tay-Sachs Disease, B1 Variant

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Articles related to Tay-Sachs Disease, B1 Variant:

idTitleAuthorsYear
1
Tay-Sachs disease: B1 variant. (2976595)
1988

Variations for Tay-Sachs Disease, B1 Variant

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Expression for genes affiliated with Tay-Sachs Disease, B1 Variant

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Search GEO for disease gene expression data for Tay-Sachs Disease, B1 Variant.

Pathways for genes affiliated with Tay-Sachs Disease, B1 Variant

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Compounds for genes affiliated with Tay-Sachs Disease, B1 Variant

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GO Terms for genes affiliated with Tay-Sachs Disease, B1 Variant

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Products for genes affiliated with Tay-Sachs Disease, B1 Variant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Tay-Sachs Disease, B1 Variant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet