Genopathy
Gene-Disorder Association · Article
Gene
CDKN1B
Cyclin Dependent Kinase Inhibitor 1B
Disorder
Multiple Endocrine Neoplasia, Type I
First reported 2007
Supporting publications 4
Key publication · gene–disorder The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations.The Journal of clinical endocrinology and metabolism · 2007
Key publication · disorder Genetic aspects of adenomatosis of endocrine glands.The American journal of medicine · 1954
Manually curated
Association Review

In brief

The association between CDKN1B (Cyclin Dependent Kinase Inhibitor 1B) and Multiple Endocrine Neoplasia, Type I is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 1
Symptoms 105
Compounds 0
Trials 0
Publications 4
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

2 sources

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

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03
CDKN1B

The gene

1 source summary

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

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04
Multiple Endocrine Neoplasia, Type I

The disorder

14 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

84 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

1 clinical variant

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

4 publications

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

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09
Provenance

References & sources

12 references

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

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