Genopathy
Gene-Disorder Association · Article
Gene
LOC126859690
MED14-Independent Group 3 Enhancer GRCh37_chr6:51888848-51890047
Disorder
Polycystic Kidney Disease 4
First reported 2002
Supporting publications 17
Key publication · gene–disorder PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.American journal of human genetics · 2002
Key publication · disorder Type D hepatitis: the clinical significance of hepatitis D virus RNA in serum as detected by a hybridization-based assay.Hepatology (Baltimore, Md.) · 1986
Manually curated
Association Review

In brief

The association between LOC126859690 (MED14-Independent Group 3 Enhancer GRCh37_chr6:51888848-51890047) and Polycystic Kidney Disease 4 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 80
Symptoms 0
Compounds 0
Trials 0
Publications 17
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
LOC126859690

The gene

1 source summary

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

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04
Polycystic Kidney Disease 4

The disorder

2 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

80 clinical variants

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

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06
Literature

Reading

17 publications

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

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07
Provenance

References & sources

10 references

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

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