Association Review
In brief
The association between CCDC28B (Coiled-Coil Domain Containing 28B) and Bardet-Biedl Syndrome is reported, with clinical genetic testing available.
Sources
1
Clinical variants
1
Symptoms
97
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.
02
Provenance
Evidence and sources
1 source
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
1 source summary
A gene summary alongside the source descriptions it was distilled from.
04
Bardet-Biedl Syndrome
The disorder
9 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
05
Phenotype
Clinical features
95 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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.
07
Mechanism overlap
Shared mechanisms
1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
08
Provenance
References & sources
7 references
Every source and publication cited across this dossier, as one numbered reference list.
