Association Review
In brief The association between SPINK1 (Serine Peptidase Inhibitor Kazal Type 1) and Pancreatitis is reported, with clinical genetic testing available, supported by 2 contributing sources.
Sources
2
Clinical variants
1
Symptoms
8
Compounds
0
Trials
0
Publications
43
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
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Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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ClinVar and variant evidence
Genetic basis 1 clinical variant
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Population genetics
GWAS signals 5 GWAS phenotypes
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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Genomic context
Regulatory context 1 regulatory element
GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 15 references
Every source and publication cited across this dossier, as one numbered reference list.
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