NPHP1 and Bardet-Biedl Syndrome: Association Evidence

At a glance

Association overview

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

Provenance

3 sources

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

NPHP1

1 source summary

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

Bardet-Biedl Syndrome

9 database identifiers

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

Phenotype

95 clinical features

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

Mechanism overlap

1 shared pathway

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

Literature

2 publications

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

Provenance

9 references

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