MCID: BSC002
MIFTS: 10

Bscl2-Related Neurologic Disorders/seipinopathy malady

Genetic diseases (common), Neuronal diseases categories

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 21 22


Classifications:



Summaries for Bscl2-Related Neurologic Disorders/seipinopathy

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MalaCards based summary: Bscl2-Related Neurologic Disorders/seipinopathy is related to berardinelli-seip congenital lipodystrophy and gata1-related x-linked cytopenia. An important gene associated with Bscl2-Related Neurologic Disorders/seipinopathy is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)).

GeneReviews summary for spg17

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1berardinelli-seip congenital lipodystrophy9.9BSCL2, GARS
2gata1-related x-linked cytopenia9.9BSCL2, GARS
3hand-foot-uterus syndrome9.9BSCL2, GARS
4charcot-marie-tooth disease, type 2d9.8BSCL2, GARS
5dkc1-related dyskeratosis congenita9.8BSCL2, GARS
6charcot-marie-tooth disease, type 2e9.8BSCL2, GARS
7mouth disease9.8BSCL2, GARS
8congenital generalized lipodystrophy9.7BSCL2, GARS

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/seipinopathy22 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet