Genopathy
Gene-Disorder Association · Article
Gene
LOC130058907
ATAC-STARR-Seq Lymphoblastoid Silent Region 7421
Disorder
Familial Renal Glucosuria
First reported 2008
Supporting publications 3
Key publication · gene–disorder Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2008
Key publication · disorder [Certain aspects of renal diabetes].Helvetica medica acta · 1950
Manually curated
Association Review

In brief

The association between LOC130058907 (ATAC-STARR-Seq Lymphoblastoid Silent Region 7421) and Familial Renal Glucosuria is a manually-curated gene–disease association, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 13
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

1 source

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

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03
LOC130058907

The gene

1 source summary

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

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04
Familial Renal Glucosuria

The disorder

8 database identifiers

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

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05
Phenotype

Clinical features

13 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

8 references

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

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