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Article

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

American journal of human genetics - 7 Jan 2016

Kochinke Korinna, Zweier Christiane, Nijhof Bonnie, Fenckova Michaela, Cizek Pavel, Honti Frank, Keerthikumar Shivakumar, Oortveld Merel A W, Kleefstra Tjitske, Kramer Jamie M, Webber Caleb, Huynen Martijn A, Schenck Annette

Abstract excerpt

Intellectual disability (ID) disorders are genetically and phenotypically extremely heterogeneous. Can this complexity be depicted in a comprehensive way as a means of facilitating the understanding of ID disorders and their underlying biology? We provide a curated database of 746 currently known genes, mutations in which cause ID (ID-associated genes [ID-AGs]), classified according to ID manifestation and...

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PMID: 26748517
DOI: 10.1016/j.ajhg.2015.11.024
PMCID: PMC4716705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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