(Q31068610)

18 October 2017

Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases (English)

1 reference

18 October 2017

1 reference

1 reference

2

1 reference

PubMed ID

22719993

Dietrich Rebholz-Schuhmann

28 June 2017

series ordinal

4

object named as

Dietrich Rebholz-Schuhmann

1 reference

18 October 2017

Georgios V Gkoutos

3

0 references

Anika Oellrich

series ordinal

1

object named as

Anika Oellrich

1 reference

PMCID

3375301

18 October 2017

language of work or name

English

0 references

publication date

14 June 2012

1 reference

18 October 2017

1 reference

18 October 2017

7

1 reference

18 October 2017

6

1 reference

18 October 2017

e38937

1 reference

Creative Commons Attribution 4.0 International

18 October 2017

start time

14 June 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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MouseFinder: Candidate disease genes from mouse phenotype data

21 June 2018

1 reference

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PhenomeNET: a whole-phenome approach to disease gene discovery

21 June 2018

1 reference

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A conditional knockout resource for the genome-wide study of mouse gene function

21 June 2018

1 reference

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A gene-phenotype network for the laboratory mouse and its implications for systematic phenotyping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Prioritizing candidate disease genes by network-based boosting of genome-wide association data.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

21 June 2018

1 reference

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A common layer of interoperability for biomedical ontologies based on OWL EL.

21 June 2018

1 reference

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A guide to web tools to prioritize candidate genes

21 June 2018

1 reference

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Worm Phenotype Ontology: integrating phenotype data within and beyond the C. elegans community

21 June 2018

1 reference

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Lack of the ventral anterior homeodomain transcription factor VAX1 leads to induction of a second pituitary

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Interoperability between phenotype and anatomy ontologies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

PhenoHM: human-mouse comparative phenome-genome server

21 June 2018

1 reference

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Creating mappings for ontologies in biomedicine: simple methods work.

21 June 2018

1 reference

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Integrating phenotype ontologies across multiple species

21 June 2018

1 reference

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Entity/quality-based logical definitions for the human skeletal phenome using PATO

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Linking human diseases to animal models using ontology-based phenotype annotation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Saccharomyces Genome Database provides mutant phenotype data.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Evaluation of GO-based functional similarity measures using S. cerevisiae protein interaction and expression profile data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Walking the interactome for prioritization of candidate disease genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

ChEBI: a database and ontology for chemical entities of biological interest

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

The mouse ascending: perspectives for human-disease models

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

GDF6, a novel locus for a spectrum of ocular developmental anomalies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Gene prioritization through genomic data fusion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

The Adult Mouse Anatomical Dictionary: a tool for annotating and integrating data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Using ontologies to describe mouse phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Pathbase: a new reference resource and database for laboratory mouse pathology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

A reference ontology for biomedical informatics: the Foundational Model of Anatomy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Investigating semantic similarity measures across the Gene Ontology: the relationship between sequence and annotation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Phenotypic data in FlyBase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

MARCKS deficiency in mice leads to abnormal brain development and perinatal death

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

Toward principles for the design of ontologies used for knowledge sharing?

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038937

An introduction to ROC analysis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038937

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038937

SUSPECTS: enabling fast and effective prioritization of positional candidates

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375301

25 November 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0038937

A text-mining analysis of the human phenome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22719993

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new partner for the international knockout mouse consortium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22719993

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Orphanet: a European database for rare diseases]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22719993

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0038937

1 reference

18 October 2017

0 references

1 reference

18 October 2017

1 reference

PMCID

3375301