MCID: AML023

Amelogenesis Imperfecta, Type Iia2 malady

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Summaries for Amelogenesis Imperfecta, Type Iia2

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47OMIM, 33MalaCards
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MalaCards: Amelogenesis Imperfecta, Type Iia2 An important gene associated with Amelogenesis Imperfecta, Type Iia2 is MMP20 (matrix metallopeptidase 20).

Description from OMIM:47 612529

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia2

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47OMIM
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Aliases & Descriptions:

amelogenesis imperfecta, type iia2 47


Related Diseases for Amelogenesis Imperfecta, Type Iia2

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Symptoms for Amelogenesis Imperfecta, Type Iia2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

612529

Clinical features from OMIM:

612529

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia2

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Amelogenesis Imperfecta, Type Iia2

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Anatomical Context for Amelogenesis Imperfecta, Type Iia2

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Animal Models for Amelogenesis Imperfecta, Type Iia2 or affiliated genes

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Publications for Amelogenesis Imperfecta, Type Iia2

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Variations for Amelogenesis Imperfecta, Type Iia2

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Amelogenesis Imperfecta, Type Iia2:

1
id Gene Name Type Significance SNP ID Assembly Location
1MMP20NM_004771.3(MMP20): c.678T> A (p.His226Gln)single nucleotide variantPathogenic/card/amelogenesis_imperfecta_type_iia2GRCh38Chr 11, 102609070: 102609070
2MMP20NM_004771.3(MMP20): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenic/card/amelogenesis_imperfecta_type_iia2GRCh38Chr 11, 102625218: 102625218
3MMP20NM_004771.3(MMP20): c.954-2A> Tsingle nucleotide variantPathogenicrs140213840GRCh38Chr 11, 102594759: 102594759

Expression for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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Pathways for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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Compounds for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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GO Terms for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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Products for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amelogenesis Imperfecta, Type Iia2

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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