MCID: SCP006

Scaphocephaly and Axenfeld-Rieger Anomaly malady

Summaries for Scaphocephaly and Axenfeld-Rieger Anomaly

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34MalaCards
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MalaCards: Scaphocephaly and Axenfeld-Rieger Anomaly An important gene associated with Scaphocephaly and Axenfeld-Rieger Anomaly is FGFR2 (fibroblast growth factor receptor 2).

Aliases & Classifications for Scaphocephaly and Axenfeld-Rieger Anomaly

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48OMIM
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Aliases & Descriptions:

scaphocephaly and axenfeld-rieger anomaly 48


Related Diseases for Scaphocephaly and Axenfeld-Rieger Anomaly

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Symptoms for Scaphocephaly and Axenfeld-Rieger Anomaly

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Drugs & Therapeutics for Scaphocephaly and Axenfeld-Rieger Anomaly

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Scaphocephaly and Axenfeld-Rieger Anomaly

Drug clinical trials:

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Search NIH Clinical Center for Scaphocephaly and Axenfeld-Rieger Anomaly

Search CenterWatch for Scaphocephaly and Axenfeld-Rieger Anomaly

Genetic Tests for Scaphocephaly and Axenfeld-Rieger Anomaly

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Anatomical Context for Scaphocephaly and Axenfeld-Rieger Anomaly

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Animal Models for Scaphocephaly and Axenfeld-Rieger Anomaly or affiliated genes

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Publications for Scaphocephaly and Axenfeld-Rieger Anomaly

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Variations for Scaphocephaly and Axenfeld-Rieger Anomaly

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Scaphocephaly and Axenfeld-Rieger Anomaly:

1
id Gene Name Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1032G> A (p.Ala344=)single nucleotide variantPathogenicrs121918491GRCh37Chr 10, 123276885: 123276885

Expression for genes affiliated with Scaphocephaly and Axenfeld-Rieger Anomaly

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scaphocephaly and Axenfeld-Rieger Anomaly

Search GEO for disease gene expression data for Scaphocephaly and Axenfeld-Rieger Anomaly.

Pathways for genes affiliated with Scaphocephaly and Axenfeld-Rieger Anomaly

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Compounds for genes affiliated with Scaphocephaly and Axenfeld-Rieger Anomaly

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GO Terms for genes affiliated with Scaphocephaly and Axenfeld-Rieger Anomaly

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Products for genes affiliated with Scaphocephaly and Axenfeld-Rieger Anomaly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scaphocephaly and Axenfeld-Rieger Anomaly

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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