Evidence map›Paper›PMID 23091697›Full record

ArticleScientific reports2012

Evolutionary history of human disease genes reveals phenotypic connections and comorbidity among genetic diseases.

Solip Park, Jae-Seong Yang, Jinho Kim, Young-Eun Shin, Jihye Hwang, Juyong Park, Sung Key Jang, Sanguk Kim

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 23% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.

  1. Applications of network analysis to routinely collected health care data: a systematic review.Journal of the American Medical Informatics Association : JAMIA · 2018
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 2 institutions in 2 countries.

Solip ParkSchool of Interdisciplinary Bioscience and Bioengineering, Biotechnology Research Center, Pohang University of Science and Technology, Pohang, Korea.
Jae-Seong Yang
Jinho Kim
Young-Eun Shin
Jihye Hwang
Juyong Park
Sung Key Jang
Sanguk Kim
Pohang University of Science and Technology · KRKyung Hee University · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The extent to which evolutionary changes have impacted the phenotypic relationships among human diseases remains unclear. In this work, we report that phenotypically similar diseases are connected by the evolutionary constraints on human disease genes. Human disease groups can be classified into slowly or rapidly evolving classes, where the diseases in the slowly evolving class are enriched with morphological phenotypes and those in the rapidly evolving class are enriched with physiological phenotypes. Our findings establish a clear evolutionary connection between disease classes and disease phenotypes for the first time. Furthermore, the high comorbidity found between diseases connected by similar evolutionary constraints enables us to improve the predictability of the relative risk of human diseases. We find the evolutionary constraints on disease genes are a new layer of molecular connection in the network-based exploration of human diseases.

Indexed as

ComorbidityEvolution, MolecularGenome, HumanDiseaseHumansMultigene FamilyPhenotypeProtein Interaction Maps

Identifiers

PMID23091697
PMCPMC3477654
OpenAlexW2010835844

What Socratic holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.