MCID: MCR107

Microphthalmia with Coloboma 6 malady

Genetic diseases (common) category
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Summaries for Microphthalmia with Coloboma 6

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MalaCards based summary: Microphthalmia with Coloboma 6 is related to microphthalmia with coloboma 6, digenic. An important gene associated with Microphthalmia with Coloboma 6 is GDF3 (growth differentiation factor 3).

Description from OMIM:46 613703

Aliases & Classifications for Microphthalmia with Coloboma 6

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Microphthalmia with Coloboma 6, Aliases & Descriptions:

Name: Microphthalmia with Coloboma 6 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Microphthalmia with Coloboma 6

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Diseases in the Microphthalmia with Coloboma 6 family:

Microphthalmia with Coloboma 5 Microphthalmia with Coloboma 3
Microphthalmia with Coloboma 2 Microphthalmia with Coloboma 1

Diseases related to Microphthalmia with Coloboma 6 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia with coloboma 6, digenic10.4

Symptoms for Microphthalmia with Coloboma 6

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Clinical features from OMIM:

613703

Drugs & Therapeutics for Microphthalmia with Coloboma 6

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Drug clinical trials:

Search ClinicalTrials for Microphthalmia with Coloboma 6

Search NIH Clinical Center for Microphthalmia with Coloboma 6

Genetic Tests for Microphthalmia with Coloboma 6

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Anatomical Context for Microphthalmia with Coloboma 6

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Animal Models for Microphthalmia with Coloboma 6 or affiliated genes

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Publications for Microphthalmia with Coloboma 6

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Variations for Microphthalmia with Coloboma 6

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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia with Coloboma 6:

64
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412
2GDF3p.Arg274TrpVAR_065149

Clinvar genetic disease variations for Microphthalmia with Coloboma 6:

6
id Gene Name Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.796C> T (p.Arg266Cys)single nucleotide variantPathogenicrs140926412GRCh37Chr 12, 7842773: 7842773
2GDF3NM_020634.1(GDF3): c.820C> T (p.Arg274Trp)single nucleotide variantPathogenicrs387906946GRCh37Chr 12, 7842749: 7842749

Expression for genes affiliated with Microphthalmia with Coloboma 6

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Expression patterns in normal tissues for genes affiliated with Microphthalmia with Coloboma 6

Search GEO for disease gene expression data for Microphthalmia with Coloboma 6.

Pathways for genes affiliated with Microphthalmia with Coloboma 6

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Compounds for genes affiliated with Microphthalmia with Coloboma 6

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GO Terms for genes affiliated with Microphthalmia with Coloboma 6

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Products for genes affiliated with Microphthalmia with Coloboma 6

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  • Antibodies
  • Proteins
  • Lysates

Sources for Microphthalmia with Coloboma 6

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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