LOC129994826 and Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation: 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

1 source

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

LOC129994826

1 source summary

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

Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation

6 database identifiers

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

Phenotype

117 clinical features

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

ClinVar and variant evidence

31 clinical variants

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

Literature

5 publications

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

Provenance

11 references

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