Genopathy
Gene-Disorder Association · Article
Gene
PROS1
Protein S
Disorder
Thrombophilia
First reported 1998
Supporting publications 1
Key publication · gene–disorder A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort.Thrombosis and haemostasis · 1998
Key publication · disorder [Thrombophilia; a hematological and clinical problem].Minerva medica · 1951
Manually curated
Association Review

In brief

The association between PROS1 (Protein S) and Thrombophilia is reported, with clinical genetic testing available.

Sources 1
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

1 source

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

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03
PROS1

The gene

1 source summary

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

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04
Thrombophilia

The disorder

7 database identifiers

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

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05
Mechanism overlap

Shared mechanisms

5 shared pathways

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

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

7 references

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

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