Association Review
In brief The association between PHOX2B (Paired Like Homeobox 2B) and Hirschsprung Disease-Ganglioneuroblastoma Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a susceptibility locus.
Sources
3
Clinical variants
2
Symptoms
8
Compounds
0
Trials
0
Publications
6
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 3 sources
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-Ganglioneuroblastoma Syndrome
The disorder 5 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 8 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 2 clinical variants
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 08
Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
Request access 6 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 10
Provenance
References & sources 13 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
