MCID: BSC002

Bscl2-Related Neurologic Disorders/seipinopathy malady

Categories: Genetic diseases (common), Neuronal diseases

Aliases & Classifications for Bscl2-Related Neurologic Disorders/seipinopathy

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

Name: Bscl2-Related Neurologic Disorders/seipinopathy 22 23

Classifications:



Summaries for Bscl2-Related Neurologic Disorders/seipinopathy

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MalaCards based summary: Bscl2-Related Neurologic Disorders/seipinopathy is related to ceroid lipofuscinosis, neuronal, 13, kufs type and encephalopathy, progressive, with or without lipodystrophy. An important gene associated with Bscl2-Related Neurologic Disorders/seipinopathy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated).

GeneReviews summary for NBK1307

Related Diseases for Bscl2-Related Neurologic Disorders/seipinopathy

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Graphical network of diseases related to Bscl2-Related Neurologic Disorders/seipinopathy:



Diseases related to bscl2-related neurologic disorders/seipinopathy

Symptoms for Bscl2-Related Neurologic Disorders/seipinopathy

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Drugs & Therapeutics for Bscl2-Related Neurologic Disorders/seipinopathy

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Interventional clinical trials:

Search ClinicalTrials, 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/seipinopathy23 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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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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GO Terms for genes affiliated with Bscl2-Related Neurologic Disorders/seipinopathy

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Sources for Bscl2-Related Neurologic Disorders/seipinopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet