Association Review
In brief The association between LOC110121502 (VISTA Enhancer Hs2326) and Hirschsprung Disease 1 is supported by expert-curated evidence, supported by a single expert-curated source.
Sources
1
Clinical variants
1
Symptoms
25
Compounds
0
Trials
0
Publications
2
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.
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 1 source summary
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Hirschsprung Disease 1
The disorder 18 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 21 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 1 clinical variant
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
Request access 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.
Request access 2 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 09
Provenance
References & sources 9 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
