MCID: MCR110
MIFTS: 13

Microphthalmia with Coloboma 6, Digenic malady

Genetic diseases (common) category

Summaries for Microphthalmia with Coloboma 6, Digenic

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 613703

Aliases & Classifications for Microphthalmia with Coloboma 6, Digenic

About this section
Sources:
48OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

microphthalmia with coloboma 6, digenic 48


Related Diseases for Microphthalmia with Coloboma 6, Digenic

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

613703

Drugs & Therapeutics for Microphthalmia with Coloboma 6, Digenic

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Microphthalmia with Coloboma 6, Digenic

Drug clinical trials:

Search ClinicalTrials for Microphthalmia with Coloboma 6, Digenic

Search NIH Clinical Center for Microphthalmia with Coloboma 6, Digenic

Search CenterWatch for Microphthalmia with Coloboma 6, Digenic

Genetic Tests for Microphthalmia with Coloboma 6, Digenic

About this section

Anatomical Context for Microphthalmia with Coloboma 6, Digenic

About this section

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

About this section

Publications for Microphthalmia with Coloboma 6, Digenic

About this section

Variations for Microphthalmia with Coloboma 6, Digenic

About this section
Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412
2GDF3p.Arg274TrpVAR_065149

Expression for genes affiliated with Microphthalmia with Coloboma 6, Digenic

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 58SinoBiological
See all sources

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

About this section

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

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microphthalmia with Coloboma 6, Digenic

About this section
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