LOC126806932 and Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy: 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.

LOC126806932

1 source summary

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

Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

12 database identifiers

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

Phenotype

60 clinical features

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

ClinVar and variant evidence

3 clinical variants

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

Literature

2 publications

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

Provenance

8 references

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