The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease (Q34865360)

5 August 2017

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

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5 August 2017

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1

Peter N Robinson

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Stefan Mundlos

series ordinal

6

object named as

Stefan Mundlos

1 reference

5 August 2017

Sebastian Köhler

2

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Dominik Seelow

object named as

Dominik Seelow

series ordinal

4

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Sebastian Bauer

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3

object named as

Sebastian Bauer

1 reference

5 August 2017

5

Denise Horn

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PubMed ID

18950739

5 August 2017

language of work or name

English

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publication date

23 October 2008

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American Journal of Human Genetics

5 August 2017

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5 August 2017

83

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5 August 2017

610-615

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5 August 2017

5

1 reference

A probabilistic generative model for GO enrichment analysis

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Metrics for GO based protein semantic similarity: a systematic evaluation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Walking the interactome for prioritization of candidate disease genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Network properties of genes harboring inherited disease mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

OBO-Edit--an ontology editor for biologists

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

The human disease network

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

A human phenome-interactome network of protein complexes implicated in genetic disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

The modular nature of genetic diseases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Computational approaches to phenotyping: high-throughput phenomics.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

The molecular genetics of Marfan syndrome and related disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

CGMIM: automated text-mining of Online Mendelian Inheritance in Man (OMIM) to identify genetically-associated cancers and candidate genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

From syndrome families to functional genomics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Cytoscape: a software environment for integrated models of biomolecular interaction networks

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Evaluation of the UMLS as a terminology and knowledge resource for biomedical informatics.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Association of genes to genetically inherited diseases using data mining

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Specificity and stability in topology of protein networks

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Creating the gene ontology resource: design and implementation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Gene ontology: tool for the unification of biology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Identification of common molecular subsequences

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

Using literature-based discovery to identify disease candidate genes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668030

A text-mining analysis of the human phenome

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18950739

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.09.017

1 reference

5 August 2017

1 reference

5 August 2017

1 reference

PubMed ID

18950739