MCID: BSC002
MIFTS: 10

Bscl2-Related Neurologic Disorders/seipinopathy malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Bscl2-Related Neurologic Disorders/seipinopathy

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MalaCards based summary: Bscl2-Related Neurologic Disorders/seipinopathy is related to distal hereditary motor neuropathy and neuropathy, distal hereditary motor, type va. An important gene associated with Bscl2-Related Neurologic Disorders/seipinopathy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)).

GeneReviews summary for spg17

Aliases & Classifications for Bscl2-Related Neurologic Disorders/seipinopathy

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Bscl2-Related Neurologic Disorders/seipinopathy, Aliases & Descriptions:

Name: Bscl2-Related Neurologic Disorders/seipinopathy 20 21


Classifications:

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


Related Diseases for Bscl2-Related Neurologic Disorders/seipinopathy

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Diseases related to Bscl2-Related Neurologic Disorders/seipinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1distal hereditary motor neuropathy10.2GARS
2neuropathy, distal hereditary motor, type va9.8GARS, BSCL2

Symptoms for Bscl2-Related Neurologic Disorders/seipinopathy

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Drugs & Therapeutics for Bscl2-Related Neurologic Disorders/seipinopathy

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Drug clinical trials:

Search ClinicalTrials for Bscl2-Related Neurologic Disorders/seipinopathy

Search NIH Clinical Center for Bscl2-Related Neurologic Disorders/seipinopathy

Genetic Tests for Bscl2-Related Neurologic Disorders/seipinopathy

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Genetic tests related to Bscl2-Related Neurologic Disorders/seipinopathy:

id Genetic test Affiliating Genes
1 Bscl2-Related Neurologic Disorders/seipinopathy21 BSCL2

Anatomical Context for Bscl2-Related Neurologic Disorders/seipinopathy

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Animal Models for Bscl2-Related Neurologic Disorders/seipinopathy or affiliated genes

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Publications for Bscl2-Related Neurologic Disorders/seipinopathy

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Articles related to Bscl2-Related Neurologic Disorders/seipinopathy:

idTitleAuthorsYear
1
BSCL2-Related Neurologic Disorders/Seipinopathy (20301484)
1993

Variations for Bscl2-Related Neurologic Disorders/seipinopathy

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Expression for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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Expression patterns in normal tissues for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

Search GEO for disease gene expression data for Bscl2-Related Neurologic Disorders/seipinopathy.

Pathways for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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Compounds for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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GO Terms for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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Biological processes related to Bscl2-Related Neurologic Disorders/seipinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.1GARS, BSCL2

Products for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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

Sources for Bscl2-Related Neurologic Disorders/seipinopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet