MCID: WLM007

Wilms Tumor Susceptibility-5 malady

Genetic diseases (common), Cancer diseases categories
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Summaries for Wilms Tumor Susceptibility-5

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MalaCards based summary: Wilms Tumor Susceptibility-5 and has symptoms including An important gene associated with Wilms Tumor Susceptibility-5 is POU6F2 (POU class 6 homeobox 2).

Description from OMIM:46 601583

Aliases & Classifications for Wilms Tumor Susceptibility-5

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Wilms Tumor Susceptibility-5, Aliases & Descriptions:

Name: Wilms Tumor Susceptibility-5 46


Classifications:

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


Related Diseases for Wilms Tumor Susceptibility-5

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Symptoms for Wilms Tumor Susceptibility-5

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Symptoms by clinical synopsis from OMIM:

601583

Clinical features from OMIM:

601583

HPO human phenotypes related to Wilms Tumor Susceptibility-5:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 somatic mutation HP:0001428
3 nephroblastoma (wilms tumor) HP:0002667

Drugs & Therapeutics for Wilms Tumor Susceptibility-5

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Drug clinical trials:

Search ClinicalTrials for Wilms Tumor Susceptibility-5

Search NIH Clinical Center for Wilms Tumor Susceptibility-5

Genetic Tests for Wilms Tumor Susceptibility-5

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Anatomical Context for Wilms Tumor Susceptibility-5

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Animal Models for Wilms Tumor Susceptibility-5 or affiliated genes

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Publications for Wilms Tumor Susceptibility-5

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Variations for Wilms Tumor Susceptibility-5

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UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor Susceptibility-5:

64
id Symbol AA change Variation ID SNP ID
1POU6F2p.Gln192HisVAR_022419

Clinvar genetic disease variations for Wilms Tumor Susceptibility-5:

6
id Gene Name Type Significance SNP ID Assembly Location
1POU6F2NM_007252.3(POU6F2): c.573G> T (p.Gln191His)single nucleotide variantrisk factorrs121918261GRCh37Chr 7, 39379302: 39379302
2POU6F2POU6F2, C-G, EXON 1C, 5-PRIME UTRsingle nucleotide variantPathogenic

Expression for genes affiliated with Wilms Tumor Susceptibility-5

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Expression patterns in normal tissues for genes affiliated with Wilms Tumor Susceptibility-5

Search GEO for disease gene expression data for Wilms Tumor Susceptibility-5.

Pathways for genes affiliated with Wilms Tumor Susceptibility-5

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Compounds for genes affiliated with Wilms Tumor Susceptibility-5

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GO Terms for genes affiliated with Wilms Tumor Susceptibility-5

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Products for genes affiliated with Wilms Tumor Susceptibility-5

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  • Antibodies
  • Proteins
  • Lysates

Sources for Wilms Tumor Susceptibility-5

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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