MCID: SCP006

Scaphocephaly and Axenfeld-Rieger Anomaly malady

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Summaries for Scaphocephaly and Axenfeld-Rieger Anomaly

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33MalaCards
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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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47OMIM
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Aliases & Descriptions:

scaphocephaly and axenfeld-rieger anomaly 47


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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Scaphocephaly and Axenfeld-Rieger Anomaly

Search NIH Clinical Center 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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scaphocephaly and Axenfeld-Rieger Anomaly

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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
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Sources for Scaphocephaly and Axenfeld-Rieger Anomaly

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet