MCID: CTR043

Cataract, Pulverulent or Cerulean, with or Without Microcornea malady

Genetic diseases (common) category
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Summaries for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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MalaCards based summary: Cataract, Pulverulent or Cerulean, with or Without Microcornea and has symptoms including An important gene associated with Cataract, Pulverulent or Cerulean, with or Without Microcornea is MAF (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog).

Description from OMIM:46 610202

Aliases & Classifications for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Cataract, Pulverulent or Cerulean, with or Without Microcornea, Aliases & Descriptions:

Name: Cataract, Pulverulent or Cerulean, with or Without Microcornea 46


Classifications:

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


Related Diseases for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Symptoms for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Symptoms by clinical synopsis from OMIM:

610202

Clinical features from OMIM:

610202

HPO human phenotypes related to Cataract, Pulverulent or Cerulean, with or Without Microcornea:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 microcornea HP:0000482
3 iris coloboma HP:0000612
4 cortical pulverulent cataract HP:0007780
5 cerulean cataract HP:0007976

Drugs & Therapeutics for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Drug clinical trials:

Search ClinicalTrials for Cataract, Pulverulent or Cerulean, with or Without Microcornea

Search NIH Clinical Center for Cataract, Pulverulent or Cerulean, with or Without Microcornea

Genetic Tests for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Anatomical Context for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Animal Models for Cataract, Pulverulent or Cerulean, with or Without Microcornea or affiliated genes

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Publications for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Variations for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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UniProtKB/Swiss-Prot genetic disease variations for Cataract, Pulverulent or Cerulean, with or Without Microcornea:

64
id Symbol AA change Variation ID SNP ID
1MAFp.Arg288ProVAR_029369
2MAFp.Lys297ArgVAR_029370

Clinvar genetic disease variations for Cataract, Pulverulent or Cerulean, with or Without Microcornea:

6
id Gene Name Type Significance SNP ID Assembly Location
1MAFNM_005360.4(MAF): c.863G> C (p.Arg288Pro)single nucleotide variantPathogenicrs121917735GRCh37Chr 16, 79632937: 79632937
2MAFNM_005360.4(MAF): c.890A> G (p.Lys297Arg)single nucleotide variantPathogenicrs121917736GRCh37Chr 16, 79632910: 79632910

Expression for genes affiliated with Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Expression patterns in normal tissues for genes affiliated with Cataract, Pulverulent or Cerulean, with or Without Microcornea

Search GEO for disease gene expression data for Cataract, Pulverulent or Cerulean, with or Without Microcornea.

Pathways for genes affiliated with Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Compounds for genes affiliated with Cataract, Pulverulent or Cerulean, with or Without Microcornea

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GO Terms for genes affiliated with Cataract, Pulverulent or Cerulean, with or Without Microcornea

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Products for genes affiliated with Cataract, Pulverulent or Cerulean, with or Without Microcornea

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cataract, Pulverulent or Cerulean, with or Without Microcornea

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet