MCID: TYS005
MIFTS: 10

Tay-Sachs Disease, B1 Variant malady

Neuronal diseases, Metabolic diseases categories

Summaries for Tay-Sachs Disease, B1 Variant

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32MalaCards
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MalaCards: Tay-Sachs Disease, B1 Variant, is also known as hexosaminidase a deficiency, b1 variant An important gene associated with Tay-Sachs Disease, B1 Variant is HEXA (hexosaminidase A (alpha polypeptide)).

Aliases & Classifications for Tay-Sachs Disease, B1 Variant

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Sources:
60UMLS, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

tay-sachs disease, b1 variant 48
hexosaminidase a deficiency, b1 variant 48
hexosaminidase alpha-subunit deficiency 60
gm2-gangliosidosis, b1 variant 48


External Ids:

SNOMED-CT via Orphanet57 238024005
ICD10 via Orphanet26 E75.0

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, b1 variant

Clinical Features for Tay-Sachs Disease, B1 Variant

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Drugs & Therapeutics for Tay-Sachs Disease, B1 Variant

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Sources:
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 Tay-Sachs Disease, B1 Variant

Search CenterWatch 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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Genetic 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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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tay-Sachs Disease, B1 Variant

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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

Sources for Tay-Sachs Disease, B1 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