MCID: MCR108

Microphthalmia, Isolated 7 malady

Genetic diseases (common) category

Summaries for Microphthalmia, Isolated 7

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MalaCards based summary: Microphthalmia, Isolated 7 and has symptoms including microphthalmos An important gene associated with Microphthalmia, Isolated 7 is GDF3 (growth differentiation factor 3).

Description from OMIM:45 613704

Aliases & Classifications for Microphthalmia, Isolated 7

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Microphthalmia, Isolated 7, Aliases & Descriptions:

Name: Microphthalmia, Isolated 7 45 10


Classifications:

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


External Ids:

OMIM45 613704

Related Diseases for Microphthalmia, Isolated 7

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Symptoms for Microphthalmia, Isolated 7

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Clinical features from OMIM:

613704

HPO human phenotypes related to Microphthalmia, Isolated 7:

id Description Frequency HPO Source Accession
1 microphthalmos HP:0000568

Drugs & Therapeutics for Microphthalmia, Isolated 7

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Drug clinical trials:

Search ClinicalTrials for Microphthalmia, Isolated 7

Search NIH Clinical Center for Microphthalmia, Isolated 7

Genetic Tests for Microphthalmia, Isolated 7

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Anatomical Context for Microphthalmia, Isolated 7

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Animal Models for Microphthalmia, Isolated 7 or affiliated genes

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Publications for Microphthalmia, Isolated 7

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Variations for Microphthalmia, Isolated 7

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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 7:

62
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg195GlnVAR_065147
2GDF3p.Leu305ProVAR_065150

Clinvar genetic disease variations for Microphthalmia, Isolated 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.914T> C (p.Leu305Pro)single nucleotide variantPathogenicrs387906945GRCh37Chr 12, 7842655: 7842655
2GDF3NM_020634.1(GDF3): c.584G> A (p.Arg195Gln)single nucleotide variantPathogenicrs146973734GRCh37Chr 12, 7842985: 7842985

Expression for genes affiliated with Microphthalmia, Isolated 7

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Search GEO for disease gene expression data for Microphthalmia, Isolated 7.

Pathways for genes affiliated with Microphthalmia, Isolated 7

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Compounds for genes affiliated with Microphthalmia, Isolated 7

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GO Terms for genes affiliated with Microphthalmia, Isolated 7

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Products for genes affiliated with Microphthalmia, Isolated 7

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Microphthalmia, Isolated 7

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet