Genopathy
Gene-Disorder Association · Article
Gene
SPINK1
Serine Peptidase Inhibitor Kazal Type 1
Disorder
Pancreatitis, Hereditary
First reported 1994
Supporting publications 88
Key publication · gene–disorder Tumour-associated trypsin inhibitor in the diagnosis of pancreatic carcinoma.Journal of cancer research and clinical oncology · 1994
Key publication · disorder Chronic pancreatitis and lithiasis; pathology and pathogenesis of pancreatic lithiasis.The American journal of pathology · 1950
Manually curated
Association Review

In brief

The association between SPINK1 (Serine Peptidase Inhibitor Kazal Type 1) and Pancreatitis, Hereditary is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 191
Symptoms 27
Compounds 0
Trials 0
Publications 88
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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02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SPINK1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Pancreatitis, Hereditary

The disorder

15 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

16 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

191 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

88 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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10
Provenance

References & sources

17 references

Every source and publication cited across this dossier, as one numbered reference list.

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