Genopathy
Gene-Disorder Association · Article
Gene
KLHL7
Kelch Like Family Member 7
Manually curated
Association Review

In brief

The association between KLHL7 (Kelch Like Family Member 7) and Hereditary Retinal Dystrophy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 18
Symptoms 0
Compounds 0
Trials 0
Publications 13
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

1 source

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

Request access
03
KLHL7

The gene

1 source summary

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

Request access
04
Hereditary Retinal Dystrophy

The disorder

6 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

18 clinical variants

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

Request access
06
Literature

Reading

13 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access