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Article

Compendium of causative genes and their encoded proteins for common monogenic disorders.

Protein science : a publication of the Protein Society - 1 Jan 2022

Apgar Tucker L, Sanders Charles R

Abstract excerpt

A compendium is presented of inherited monogenic disorders that have a prevalence of >1:20,000 in the human population, along with their causative genes and encoded proteins. "Simple" monogenic diseases are those for which the clinical features are caused by mutations impacting a single gene, usually in a manner that alters the sequence of the encoded protein. Of course, for a given "monogenic disorder", there is...

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Identifiers

PMID: 34515378
DOI: 10.1002/pro.4183
PMCID: PMC8740837

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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