MCID: MCR109

Microphthalmia, Isolated 4 malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories
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Summaries for Microphthalmia, Isolated 4

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47OMIM, 33MalaCards
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MalaCards: Microphthalmia, Isolated 4 An important gene associated with Microphthalmia, Isolated 4 is GDF6 (growth differentiation factor 6).

Description from OMIM:47 613094

Aliases & Classifications for Microphthalmia, Isolated 4

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

microphthalmia, isolated 4 47


Related Diseases for Microphthalmia, Isolated 4

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Symptoms for Microphthalmia, Isolated 4

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47OMIM
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Clinical features from OMIM:

613094

Drugs & Therapeutics for Microphthalmia, Isolated 4

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Microphthalmia, Isolated 4

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Anatomical Context for Microphthalmia, Isolated 4

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Animal Models for Microphthalmia, Isolated 4 or affiliated genes

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Publications for Microphthalmia, Isolated 4

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Variations for Microphthalmia, Isolated 4

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 4:

64
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903
2GDF6p.Gln119ArgVAR_063025rs140579014
3GDF6p.Asp216GlyVAR_063026
4GDF6p.Gln253LeuVAR_063027
5GDF6p.Pro327HisVAR_063028

Clinvar genetic disease variations for Microphthalmia, Isolated 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.2(GDF6): c.758A> T (p.Gln253Leu)single nucleotide variantPathogenicrs121909355GRCh37Chr 8, 97157401: 97157401
3GDF6NM_001001557.2(GDF6): c.980C> A (p.Pro327His)single nucleotide variantPathogenicrs121909356GRCh37Chr 8, 97157179: 97157179

Expression for genes affiliated with Microphthalmia, Isolated 4

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Microphthalmia, Isolated 4

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Pathways for genes affiliated with Microphthalmia, Isolated 4

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Compounds for genes affiliated with Microphthalmia, Isolated 4

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GO Terms for genes affiliated with Microphthalmia, Isolated 4

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Products for genes affiliated with Microphthalmia, Isolated 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microphthalmia, Isolated 4

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet