Genopathy
Gene-Disorder Association · Article
Gene
CFHR1
Complement Factor H Related 1
Disorder
Age Related Macular Degeneration
First reported 2006
Key publication · gene–disorder A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.Nature genetics · 2006
Key publication · disorder [Senile macular degeneration associated with acute glaucoma].L' Arcispedale S. Anna di Ferrara · 1951
Manually curated
Association Review

In brief

The association between CFHR1 (Complement Factor H Related 1) and Age Related Macular Degeneration is reported, with clinical genetic testing available.

Sources 1
Clinical variants 1
Symptoms 3
Compounds 0
Trials 0
Publications 0
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
CFHR1

The gene

1 source summary

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

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04
Age Related Macular Degeneration

The disorder

6 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

1 clinical variant

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

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06
Provenance

References & sources

4 references

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

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