MCID: MNT193
MIFTS: 11

Mental Retardation, with or Without Nystagmus malady

Genetic diseases (common), Mental diseases, Neuronal diseases categories
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Summaries for Mental Retardation, with or Without Nystagmus

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MalaCards based summary: Mental Retardation, with or Without Nystagmus An important gene associated with Mental Retardation, with or Without Nystagmus is CASK (calcium/calmodulin-dependent serine protein kinase (MAGUK family)).

Description from OMIM:46 300422

Aliases & Classifications for Mental Retardation, with or Without Nystagmus

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Related Diseases for Mental Retardation, with or Without Nystagmus

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Symptoms for Mental Retardation, with or Without Nystagmus

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Clinical features from OMIM:

300422

Drugs & Therapeutics for Mental Retardation, with or Without Nystagmus

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, with or Without Nystagmus

Search NIH Clinical Center for Mental Retardation, with or Without Nystagmus

Genetic Tests for Mental Retardation, with or Without Nystagmus

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Anatomical Context for Mental Retardation, with or Without Nystagmus

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Animal Models for Mental Retardation, with or Without Nystagmus or affiliated genes

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Publications for Mental Retardation, with or Without Nystagmus

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Variations for Mental Retardation, with or Without Nystagmus

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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, with or Without Nystagmus:

64
id Symbol AA change Variation ID SNP ID
1CASKp.Arg28LeuVAR_058719

Clinvar genetic disease variations for Mental Retardation, with or Without Nystagmus:

6
id Gene Name Type Significance SNP ID Assembly Location
1CASKNM_003688.3(CASK): c.83G> T (p.Arg28Leu)single nucleotide variantPathogenicrs137852816GRCh37Chr X, 41712457: 41712457
2CASKNM_003688.3(CASK): c.802T> C (p.Tyr268His)single nucleotide variantPathogenicrs137852817GRCh37Chr X, 41519721: 41519721
3CASKNM_003688.3(CASK): c.2129A> G (p.Asp710Gly)single nucleotide variantPathogenicrs137852818GRCh37Chr X, 41401970: 41401970
4CASKNM_003688.3(CASK): c.2740T> C (p.Trp914Arg)single nucleotide variantPathogenicrs137852819GRCh37Chr X, 41379699: 41379699
5CASKNM_003688.3(CASK): c.1186C> T (p.Pro396Ser)single nucleotide variantPathogenicrs137852820GRCh37Chr X, 41448815: 41448815
6CASKNM_003688.3(CASK): c.2168A> G (p.Tyr723Cys)single nucleotide variantPathogenicrs398122844GRCh37Chr X, 41394199: 41394199
7CASKNM_003688.3(CASK): c.2506-2A> Tsingle nucleotide variantPathogenicrs398122845GRCh37Chr X, 41383289: 41383289

Expression for genes affiliated with Mental Retardation, with or Without Nystagmus

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Expression patterns in normal tissues for genes affiliated with Mental Retardation, with or Without Nystagmus

Search GEO for disease gene expression data for Mental Retardation, with or Without Nystagmus.

Pathways for genes affiliated with Mental Retardation, with or Without Nystagmus

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Compounds for genes affiliated with Mental Retardation, with or Without Nystagmus

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GO Terms for genes affiliated with Mental Retardation, with or Without Nystagmus

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Products for genes affiliated with Mental Retardation, with or Without Nystagmus

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  • Antibodies
  • Proteins
  • Lysates

Sources for Mental Retardation, with or Without Nystagmus

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet