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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Sources:
47OMIM, 33MalaCards
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MalaCards: 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:47 613703

Aliases & Classifications for Microphthalmia with Coloboma 6

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Sources:
47OMIM
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Classifications:

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


Aliases & Descriptions:

microphthalmia with coloboma 6 47


Related Diseases for Microphthalmia with Coloboma 6

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Sources:
17GeneCards, 18GeneDecks
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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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Sources:
47OMIM
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Clinical features from OMIM:

613703

Drugs & Therapeutics for Microphthalmia with Coloboma 6

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
64UniProtKB/Swiss-Prot, 7dbSNP
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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

Expression for genes affiliated with Microphthalmia with Coloboma 6

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Microphthalmia with Coloboma 6

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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