CCAL1 and Chondrocalcinosis 1: Association Evidence

Gene-Disorder Association · Article

Gene

CCAL1

Chondrocalcinosis 1 (Calcium Pyrophosphate-Deposition Disease, Early Onset Osteoarthritis)

Disorder

First reported 1993

Key publication · disorder [GUEPAR total trapeziometacarpal prosthesis in the treatment of arthritis of the thumb. 36 case reports].Annales de chirurgie de la main et du membre superieur : organe officiel des societes de chirurgie de la main = Annals of hand and upper limb surgery · 1993

Manually curated

Association Review

In brief

The association between CCAL1 (Chondrocalcinosis 1 (Calcium Pyrophosphate-Deposition Disease, Early Onset Osteoarthritis)) and Chondrocalcinosis 1 is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1

Clinical variants 0

Symptoms 4

Compounds 0

Trials 0

Publications 0

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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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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Chondrocalcinosis 1

The disorder

4 database identifiers

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

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Phenotype

Clinical features

2 clinical features

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

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Provenance

References & sources

2 references

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

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