MCID: BRN065
MIFTS: 17

Bernard-Soulier Syndrome Type C malady

Summaries for Bernard-Soulier Syndrome Type C

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46OMIM, 32MalaCards
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MalaCards: Bernard-Soulier Syndrome Type C, is also known as bernard-soulier syndrome, type c An important gene associated with Bernard-Soulier Syndrome Type C is GP9 (glycoprotein IX (platelet)).

Description from OMIM:46 231200

Aliases & Classifications for Bernard-Soulier Syndrome Type C

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20GeneTests, 22GTR, 46OMIM
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Aliases & Descriptions:

bernard-soulier syndrome type c 20 22
bernard-soulier syndrome, type c 46


Related Diseases for Bernard-Soulier Syndrome Type C

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Clinical Features for Bernard-Soulier Syndrome Type C

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46OMIM
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Clinical features from OMIM:

231200

Clinical synopsis from OMIM:

231200

Drugs & Therapeutics for Bernard-Soulier Syndrome Type C

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bernard-Soulier Syndrome Type C

Drug clinical trials:

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Search NIH Clinical Center for Bernard-Soulier Syndrome Type C

Search CenterWatch for Bernard-Soulier Syndrome Type C

Genetic Tests for Bernard-Soulier Syndrome Type C

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20GeneTests, 22GTR
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Genetic tests related to Bernard-Soulier Syndrome Type C:

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome Type C20 22 GP9

Anatomical Context for Bernard-Soulier Syndrome Type C

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Animal Models for Bernard-Soulier Syndrome Type C or affiliated genes

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Publications for Bernard-Soulier Syndrome Type C

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Genetic Variations for Bernard-Soulier Syndrome Type C

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Bernard-Soulier Syndrome Type C:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1GP1BAp.Cys81ArgVAR_005256
2GP1BAp.Ala172ValVAR_005258
3GP1BAp.Cys225SerVAR_005260
4GP1BAp.Leu73PheVAR_014206
5GP1BAp.Leu145ProVAR_014207
6GP1BBp.Tyr113CysVAR_025000
7GP1BBp.Ala133ProVAR_025001
8GP9p.Asp37GlyVAR_005263
9GP9p.Asn61SerVAR_005264rs5030764
10GP9p.Leu7ProVAR_024996
11GP9p.Cys24ArgVAR_024997rs28933378
12GP9p.Leu56ProVAR_024998rs28933377
13GP9p.Phe71SerVAR_024999
14GP9p.Cys113TyrVAR_025008
15GP9p.Ala156ThrVAR_025009rs3796130

Expression for genes affiliated with Bernard-Soulier Syndrome Type C

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bernard-Soulier Syndrome Type C

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Pathways for genes affiliated with Bernard-Soulier Syndrome Type C

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Compounds for genes affiliated with Bernard-Soulier Syndrome Type C

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GO Terms for genes affiliated with Bernard-Soulier Syndrome Type C

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Products for genes affiliated with Bernard-Soulier Syndrome Type C

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bernard-Soulier Syndrome Type C

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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