Genopathy
Gene-Disorder Association · Article
Gene
ANKS6
Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6
Disorder
Infantile Nephronophthisis
First reported 1987
Supporting publications 1
Key publication · disorder Infantile nephronophthisis.The International journal of pediatric nephrology · 1987
Manually curated
Association Review

In brief

The association between ANKS6 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6) and Infantile Nephronophthisis is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
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

2 sources

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

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03
ANKS6

The gene

1 source summary

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

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04
Infantile Nephronophthisis

The disorder

5 database identifiers

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

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05
Literature

Reading

1 publication

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

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06
Provenance

References & sources

5 references

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

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