PNPLA2 and Disease Of Metabolism: Association Evidence

Gene-Disorder Association · Article

Gene

PNPLA2

Patatin Like Domain 2, Triacylglycerol Lipase

Disorder

First reported 2005

Supporting publications 1

Key publication · gene–disorder Isoproterenol, TNFalpha, and insulin downregulate adipose triglyceride lipase in 3T3-L1 adipocytes.Molecular and cellular endocrinology · 2005

Key publication · disorder A system of physiodynamics and its application to the neuroendocrinology of psychiatry; part II of physiodynamics and some major metabolic disorders.Journal of clinical and experimental psychopathology · 1950

Manually curated

Association Review

In brief

The association between PNPLA2 (Patatin Like Domain 2, Triacylglycerol Lipase) and Disease Of Metabolism is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 1

Compounds 0

Trials 0

Publications 1

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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PNPLA2

The gene

1 source summary

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

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Disease Of Metabolism

The disorder

9 database identifiers

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

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Literature

Reading

1 publication

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

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Provenance

References & sources

4 references

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

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