Genopathy
Gene-Disorder Association · Article
Gene
PROC
Protein C, Inactivator Of Coagulation Factors Va And VIIIa
Disorder
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
First reported 1987
Supporting publications 104
Key publication · gene–disorder Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.Proceedings of the National Academy of Sciences of the United States of America · 1987
Key publication · disorder Deficiency of protein C in congenital thrombotic disease.The Journal of clinical investigation · 1981
Manually curated
Association Review

In brief

The association between PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa) and Thrombophilia Due To Protein C Deficiency, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 334
Symptoms 11
Compounds 0
Trials 0
Publications 104
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

4 sources

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

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03
PROC

The gene

1 source summary

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

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04
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant

The disorder

10 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

9 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

334 clinical variants

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

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07
Genomic context

Regulatory context

2 regulatory elements

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

104 publications

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

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10
Provenance

References & sources

16 references

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

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