MCID: FRD002

Friedreich Ataxia with Retained Reflexes malady

Summaries for Friedreich Ataxia with Retained Reflexes

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Sources:
46OMIM, 32MalaCards
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MalaCards: Friedreich Ataxia with Retained Reflexes An important gene associated with Friedreich Ataxia with Retained Reflexes is FXN (frataxin).

Description from OMIM:46 229300

Aliases & Classifications for Friedreich Ataxia with Retained Reflexes

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46OMIM
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Aliases & Descriptions:

friedreich ataxia with retained reflexes 46


Related Diseases for Friedreich Ataxia with Retained Reflexes

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Clinical Features for Friedreich Ataxia with Retained Reflexes

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46OMIM
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Clinical features from OMIM:

229300

Drugs & Therapeutics for Friedreich Ataxia with Retained Reflexes

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

Search CenterWatch for Friedreich Ataxia with Retained Reflexes

Drug clinical trials:

Search ClinicalTrials for Friedreich Ataxia with Retained Reflexes

Search NIH Clinical Center for Friedreich Ataxia with Retained Reflexes

Search CenterWatch for Friedreich Ataxia with Retained Reflexes

Genetic Tests for Friedreich Ataxia with Retained Reflexes

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Anatomical Context for Friedreich Ataxia with Retained Reflexes

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Animal Models for Friedreich Ataxia with Retained Reflexes or affiliated genes

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Publications for Friedreich Ataxia with Retained Reflexes

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Genetic Variations for Friedreich Ataxia with Retained Reflexes

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Friedreich Ataxia with Retained Reflexes:

62
id Symbol AA change Variation ID SNP ID
1FXNp.Asp122TyrVAR_002428
2FXNp.Gly130ValVAR_002429
3FXNp.Ile154PheVAR_002430
4FXNp.Trp155ArgVAR_002431
5FXNp.Arg165CysVAR_008139
6FXNp.Leu182PheVAR_008140
7FXNp.Leu106SerVAR_016065
8FXNp.Leu198ArgVAR_016066

Expression for genes affiliated with Friedreich Ataxia with Retained Reflexes

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Friedreich Ataxia with Retained Reflexes

Search GEO for disease gene expression data for Friedreich Ataxia with Retained Reflexes.

Pathways for genes affiliated with Friedreich Ataxia with Retained Reflexes

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Compounds for genes affiliated with Friedreich Ataxia with Retained Reflexes

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GO Terms for genes affiliated with Friedreich Ataxia with Retained Reflexes

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Products for genes affiliated with Friedreich Ataxia with Retained Reflexes

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Friedreich Ataxia with Retained Reflexes

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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