PhenoDigm: analyzing curated annotations to associate animal models with human diseases (Q36830807)

16 August 2017

PhenoDigm: analyzing curated annotations to associate animal models with human diseases (English)

1 reference

16 August 2017

4

1 reference

PMCID

3649640

16 August 2017

Christopher J. Mungall

9

1 reference

16 August 2017

1

Damian Smedley

1 reference

16 August 2017

8

Suzanna Lewis

1 reference

16 August 2017

Sebastian Köhler

3

0 references

Peter Robinson

object named as

Peter Robinson

7

0 references

Anika Oellrich

2

object named as

Anika Oellrich

1 reference

16 August 2017

Sanger Mouse Genetics Project

5

1 reference

PMCID

3649640

16 August 2017

Monte Westerfield

6

1 reference

16 August 2017

9 May 2013

1 reference

16 August 2017

1 reference

16 August 2017

2013

1 reference

16 August 2017

bat025

1 reference

The mouse genome database: genotypes, phenotypes, and models of human disease

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

ZFIN, the Zebrafish Model Organism Database: increased support for mutants and transgenics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

MouseFinder: Candidate disease genes from mouse phenotype data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

PhenomeNET: a whole-phenome approach to disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal-mesenchymal interaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

PhenoHM: human-mouse comparative phenome-genome server

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

An overview of MetaMap: historical perspective and recent advances

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Systematic discovery of nonobvious human disease models through orthologous phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Integrating phenotype ontologies across multiple species

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

The mammalian phenotype ontology: enabling robust annotation and comparative analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

EuroPhenome: a repository for high-throughput mouse phenotyping data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

ENDEAVOUR update: a web resource for gene prioritization in multiple species

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Metrics for GO based protein semantic similarity: a systematic evaluation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

TFAP2A mutations result in branchio-oculo-facial syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Walking the interactome for prioritization of candidate disease genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

The mouse ascending: perspectives for human-disease models

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Update of the G2D tool for prioritization of gene candidates to inherited diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

The Unified Medical Language System (UMLS): integrating biomedical terminology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Ontologies: Formalising biological knowledge for bioinformatics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Bioinformatics for human genetics: promises and challenges.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3649640

Optimizing nucleotide sequence ensembles for combinatorial protein libraries using a genetic algorithm

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FDATABASE%2FBAT025

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23660285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An unbiased evaluation of gene prioritization tools

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23660285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/DATABASE/BAT025

1 reference

16 August 2017

1 reference

16 August 2017

1 reference

PMCID

3649640