MCID: HYP356

Hypertrypsinemia, Neonatal malady

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Summaries for Hypertrypsinemia, Neonatal

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33MalaCards
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MalaCards: Hypertrypsinemia, Neonatal An important gene associated with Hypertrypsinemia, Neonatal is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)).

Aliases & Classifications for Hypertrypsinemia, Neonatal

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47OMIM
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Aliases & Descriptions:

hypertrypsinemia, neonatal 47


Related Diseases for Hypertrypsinemia, Neonatal

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Symptoms for Hypertrypsinemia, Neonatal

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Drugs & Therapeutics for Hypertrypsinemia, Neonatal

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Hypertrypsinemia, Neonatal

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Anatomical Context for Hypertrypsinemia, Neonatal

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Animal Models for Hypertrypsinemia, Neonatal or affiliated genes

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Publications for Hypertrypsinemia, Neonatal

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Variations for Hypertrypsinemia, Neonatal

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hypertrypsinemia, Neonatal:

1
id Gene Name Type Significance SNP ID Assembly Location
1CFTRNM_000492.3(CFTR): c.2991G> C (p.Leu997Phe)single nucleotide variantPathogenic, risk factorrs1800111GRCh37Chr 7, 117250575: 117250575

Expression for genes affiliated with Hypertrypsinemia, Neonatal

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypertrypsinemia, Neonatal

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Pathways for genes affiliated with Hypertrypsinemia, Neonatal

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Compounds for genes affiliated with Hypertrypsinemia, Neonatal

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GO Terms for genes affiliated with Hypertrypsinemia, Neonatal

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Products for genes affiliated with Hypertrypsinemia, Neonatal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypertrypsinemia, Neonatal

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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