MCID: AML014

Amelogenesis Imperfecta, Hypomaturation Type, Iia2 malady

Genetic diseases (common) category

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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21GeneTests, 23GTR, 63UMLS
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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

amelogenesis imperfecta, hypomaturation type, iia2 21 23 63


Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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Symptoms for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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

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Drug clinical trials:

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Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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21GeneTests, 23GTR
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Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia221 23 MMP20

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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Animal Models for Amelogenesis Imperfecta, Hypomaturation Type, Iia2 or affiliated genes

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Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation 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_hypomaturation_type_iia2GRCh38Chr 11, 102609070: 102609070
2MMP20NM_004771.3(MMP20): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenic/card/amelogenesis_imperfecta_hypomaturation_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, Hypomaturation Type, Iia2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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Pathways for genes affiliated with Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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Compounds for genes affiliated with Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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GO Terms for genes affiliated with Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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Products for genes affiliated with Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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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