MCID: MCR107

Microphthalmia with Coloboma 6 malady

Genetic diseases (common) category

Summaries for Microphthalmia with Coloboma 6

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Sources:
48OMIM, 34MalaCards
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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:48 613703

Aliases & Classifications for Microphthalmia with Coloboma 6

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Sources:
48OMIM
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Classifications:

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


Aliases & Descriptions:

microphthalmia with coloboma 6 48


Related Diseases for Microphthalmia with Coloboma 6

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Sources:
18GeneCards, 19GeneDecks
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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:
48OMIM
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Clinical features from OMIM:

613703

Drugs & Therapeutics for Microphthalmia with Coloboma 6

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

Search CenterWatch for Microphthalmia with Coloboma 6

Drug clinical trials:

Search ClinicalTrials for Microphthalmia with Coloboma 6

Search NIH Clinical Center for Microphthalmia with Coloboma 6

Search CenterWatch 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:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia with Coloboma 6:

65
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, 16Gene 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
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