Genopathy
Gene-Disorder Association · Article
Gene
NHLRC2
NHL Repeat Containing 2
Disorder
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
First reported 2018
Supporting publications 6
Key publication · gene–disorder NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.Acta neuropathologica · 2018
Key publication · disorder Sandfly distribution and abundance in a tropical rain forest.Medical and veterinary entomology · 1991
Manually curated
Association Review

In brief

The association between NHLRC2 (NHL Repeat Containing 2) and Fibrosis, Neurodegeneration, And Cerebral Angiomatosis is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 3
Clinical variants 17
Symptoms 79
Compounds 0
Trials 0
Publications 6
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

3 sources

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

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03
NHLRC2

The gene

1 source summary

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

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04
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis

The disorder

9 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

42 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

17 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

6 publications

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

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08
Provenance

References & sources

12 references

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

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