MCID: ACH023
MIFTS: 15

Achromatopsia 4 malady

Genetic diseases, Eye diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Achromatopsia 4

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Sources:
48OMIM, 34MalaCards
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MalaCards: Achromatopsia 4, is also known as achromatopsia-4 An important gene associated with Achromatopsia 4 is GNAT2 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2).

Description from OMIM:48 613856

Aliases & Classifications for Achromatopsia 4

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Sources:
21GeneTests, 23GTR, 63UMLS, 48OMIM
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Classifications:



Aliases & Descriptions:

achromatopsia 4 21 23 63
achromatopsia-4 48


Related Diseases for Achromatopsia 4

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Symptoms for Achromatopsia 4

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Sources:
48OMIM
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Clinical features from OMIM:

613856

Drugs & Therapeutics for Achromatopsia 4

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

Search CenterWatch for Achromatopsia 4

Drug clinical trials:

Search ClinicalTrials for Achromatopsia 4

Search NIH Clinical Center for Achromatopsia 4

Search CenterWatch for Achromatopsia 4

Genetic Tests for Achromatopsia 4

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Achromatopsia 4:

id Genetic test Affiliating Genes
1 Achromatopsia 421 23 GNAT2

Anatomical Context for Achromatopsia 4

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Animal Models for Achromatopsia 4 or affiliated genes

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Publications for Achromatopsia 4

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Variations for Achromatopsia 4

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Achromatopsia 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1GNAT2NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter)single nucleotide variantPathogenicrs121434585GRCh37Chr 1, 110152730: 110152730
2GNAT2GNAT2, 4-BP INS, 842TCAGinsertionPathogenic
3GNAT2GNAT2, NT285, 7-BP DEL/6-BP INSindelPathogenic
4GNAT2NM_005272.3(GNAT2): c.461+24G> Asingle nucleotide variantPathogenicrs397515384GRCh37Chr 1, 110151229: 110151229

Expression for genes affiliated with Achromatopsia 4

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Achromatopsia 4

Search GEO for disease gene expression data for Achromatopsia 4.

Pathways for genes affiliated with Achromatopsia 4

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Compounds for genes affiliated with Achromatopsia 4

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GO Terms for genes affiliated with Achromatopsia 4

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Products for genes affiliated with Achromatopsia 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Achromatopsia 4

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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