MCID: MCR107
MIFTS: 13

Microphthalmia with Coloboma 6 malady

Summaries for Microphthalmia with Coloboma 6

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46OMIM, 32MalaCards
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MalaCards: Microphthalmia with Coloboma 6 is related to microphthalmia with coloboma 6, digenic and microphthalmia. An important gene associated with Microphthalmia with Coloboma 6 is GDF3 (growth differentiation factor 3), and among its related pathways is TGF-beta Signaling Pathway.

Description from OMIM:46 613703

Aliases & Classifications for Microphthalmia with Coloboma 6

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46OMIM
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Aliases & Descriptions:

microphthalmia with coloboma 6 46


Related Diseases for Microphthalmia with Coloboma 6

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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
2microphthalmia10.0GDF6
3coloboma10.0GDF6
4klippel-feil syndrome10.0GDF3, GDF6

Clinical Features for Microphthalmia with Coloboma 6

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46OMIM
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Clinical features from OMIM:

613703

Drugs & Therapeutics for Microphthalmia with Coloboma 6

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Genetic Variations for Microphthalmia with Coloboma 6

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Microphthalmia with Coloboma 6:

62
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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1BioGPS, 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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55SinoBiological
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Pathways related to Microphthalmia with Coloboma 6 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GDF3, GDF6

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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16Gene Ontology
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Cellular components related to Microphthalmia with Coloboma 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1GDF3, GDF6

Biological processes related to Microphthalmia with Coloboma 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growthGO:0400079.1GDF3, GDF6

Molecular functions related to Microphthalmia with Coloboma 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.1GDF3, GDF6
2growth factor activityGO:0080838.8GDF3, GDF6

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet