MCID: MCR110
MIFTS: 13

Microphthalmia with Coloboma 6, Digenic malady

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

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47OMIM, 33MalaCards
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MalaCards: Microphthalmia with Coloboma 6, Digenic is related to microphthalmia and coloboma. An important gene associated with Microphthalmia with Coloboma 6, Digenic is GDF6 (growth differentiation factor 6), and among its related pathways is TGF-beta Signaling Pathway.

Description from OMIM:47 613703

Aliases & Classifications for Microphthalmia with Coloboma 6, Digenic

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47OMIM
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Classifications:

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


Aliases & Descriptions:

microphthalmia with coloboma 6, digenic 47


Related Diseases for Microphthalmia with Coloboma 6, Digenic

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17GeneCards, 18GeneDecks
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Diseases related to Microphthalmia with Coloboma 6, Digenic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia10.0GDF6
2coloboma10.0GDF6
3klippel-feil syndrome10.0GDF6, GDF3

Symptoms for Microphthalmia with Coloboma 6, Digenic

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47OMIM
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Clinical features from OMIM:

613703

Drugs & Therapeutics for Microphthalmia with Coloboma 6, Digenic

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Microphthalmia with Coloboma 6, Digenic

Search NIH Clinical Center for Microphthalmia with Coloboma 6, Digenic

Genetic Tests for Microphthalmia with Coloboma 6, Digenic

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Anatomical Context for Microphthalmia with Coloboma 6, Digenic

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Animal Models for Microphthalmia with Coloboma 6, Digenic or affiliated genes

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Publications for Microphthalmia with Coloboma 6, Digenic

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Variations for Microphthalmia with Coloboma 6, Digenic

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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia with Coloboma 6, Digenic:

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

Expression for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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

Pathways for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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50PathCards, 57SinoBiological
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Pathways related to Microphthalmia with Coloboma 6, Digenic according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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GO Terms for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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

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

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

idNameGO IDScoreTop Affiliating Genes
1growthGO:0400079.1GDF6, GDF3

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

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

Products for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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Sources for Microphthalmia with Coloboma 6, Digenic

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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