Genopathy
Gene-Disorder Association · Article
Gene
LOC113664106
CFTR Intron 2 DNase I Hypersensitive Site
Disorder
Pancreatitis, Hereditary
First reported 1950
Key publication · disorder Chronic pancreatitis and lithiasis; pathology and pathogenesis of pancreatic lithiasis.The American journal of pathology · 1950
Association Review

In brief

The association between LOC113664106 (CFTR Intron 2 DNase I Hypersensitive Site) and Pancreatitis, Hereditary is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 3
Symptoms 27
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
LOC113664106

The gene

1 source summary

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

Request access
04
Pancreatitis, Hereditary

The disorder

15 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

3 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access