MCID: ACH023
MIFTS: 15

Achromatopsia 4 malady

Genetic diseases, Eye diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Achromatopsia 4

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MalaCards based summary: Achromatopsia 4, is also known as achromatopsia-4 and has symptoms including An important gene associated with Achromatopsia 4 is GNAT2 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2).

Description from OMIM:46 613856

Aliases & Classifications for Achromatopsia 4

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Achromatopsia 4, Aliases & Descriptions:

Name: Achromatopsia 4 20 22 62
 
Achromatopsia-4 46


Classifications:



Related Diseases for Achromatopsia 4

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Symptoms for Achromatopsia 4

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Clinical features from OMIM:

613856

HPO human phenotypes related to Achromatopsia 4:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 photophobia HP:0000613
4 nystagmus HP:0000639
5 rod monochromacy HP:0011516

Drugs & Therapeutics for Achromatopsia 4

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Drug clinical trials:

Search ClinicalTrials for Achromatopsia 4

Search NIH Clinical Center for Achromatopsia 4

Genetic Tests for Achromatopsia 4

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Genetic tests related to Achromatopsia 4:

id Genetic test Affiliating Genes
1 Achromatopsia 420 22 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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Clinvar genetic disease variations for Achromatopsia 4:

6
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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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

Sources for Achromatopsia 4

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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