MCID: MNT144
MIFTS: 15

Mental Retardation, Autosomal Dominant 6 malady

Genetic diseases, Neuronal diseases, Mental diseases, Fetal diseases, Rare diseases, Eye diseases categories

Summaries for Mental Retardation, Autosomal Dominant 6

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48OMIM, 34MalaCards
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MalaCards: Mental Retardation, Autosomal Dominant 6 An important gene associated with Mental Retardation, Autosomal Dominant 6 is GRIN2B (glutamate receptor, ionotropic, N-methyl D-aspartate 2B).

Description from OMIM:48 613970

Aliases & Classifications for Mental Retardation, Autosomal Dominant 6

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21GeneTests, 23GTR, 48OMIM
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Classifications:



Aliases & Descriptions:

mental retardation, autosomal dominant 6 21 23 48


Related Diseases for Mental Retardation, Autosomal Dominant 6

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Diseases in the Mental Retardation, Autosomal Recessive 43 family:

Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 5
mental retardation, autosomal dominant 6 Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 12 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Dominant 17 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 34 Mental Retardation, Autosomal Recessive, 9/26
Mental Retardation, Autosomal Recessive 32 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 10/20
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Dominant 16
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant, 28
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Dominant 15
Mental Retardation, Autosomal Dominant 10

Symptoms for Mental Retardation, Autosomal Dominant 6

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48OMIM
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Clinical features from OMIM:

613970

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 6

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mental Retardation, Autosomal Dominant 6

Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 6

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 6

Search CenterWatch for Mental Retardation, Autosomal Dominant 6

Genetic Tests for Mental Retardation, Autosomal Dominant 6

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21GeneTests, 23GTR
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Genetic tests related to Mental Retardation, Autosomal Dominant 6:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 621 23 GRIN2B

Anatomical Context for Mental Retardation, Autosomal Dominant 6

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Animal Models for Mental Retardation, Autosomal Dominant 6 or affiliated genes

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Publications for Mental Retardation, Autosomal Dominant 6

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Variations for Mental Retardation, Autosomal Dominant 6

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 6:

65
id Symbol AA change Variation ID SNP ID
1GRIN2Bp.Arg682CysVAR_065900
2GRIN2Bp.Pro553LeuVAR_069384

Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 6:

1
id Gene Name Type Significance SNP ID Assembly Location
1GRIN2BNM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys)single nucleotide variantPathogenicrs387906636GRCh37Chr 12, 13724865: 13724865
2GRIN2BNM_000834.3(GRIN2B): c.99dupC (p.Ser34Glnfs)duplicationPathogenicrs398122823GRCh37Chr 12, 14019043: 14019044
3GRIN2BNM_000834.3(GRIN2B): c.1367G> A (p.Cys456Tyr)single nucleotide variantPathogenicrs397514555GRCh37Chr 12, 13768560: 13768560
4GRIN2BNM_000834.3(GRIN2B): c.2172-2A> Gsingle nucleotide variantPathogenicrs398122824GRCh37Chr 12, 13722953: 13722953
5GRIN2BNM_000834.3(GRIN2B): c.1677G> A (p.Trp559Ter)single nucleotide variantPathogenicrs398122825GRCh37Chr 12, 13764762: 13764762
6GRIN2BNM_000834.3(GRIN2B): c.1658C> T (p.Pro553Leu)single nucleotide variantPathogenicrs397514556GRCh37Chr 12, 13764781: 13764781

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 6

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Pathways for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Compounds for genes affiliated with Mental Retardation, Autosomal Dominant 6

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GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Products for genes affiliated with Mental Retardation, Autosomal Dominant 6

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mental Retardation, Autosomal Dominant 6

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet