eRAM: encyclopedia of rare disease annotations for precision medicine (Q47102658)

8 January 2018

title

eRAM: encyclopedia of rare disease annotations for precision medicine (English)

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8 January 2018

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Jinmeng Jia

1

1 reference

8 January 2018

Zhongxin An

2

1 reference

8 January 2018

Yue Ming

3

1 reference

8 January 2018

Yongli Guo

4

1 reference

8 January 2018

Wei Li

5

1 reference

8 January 2018

Yunxiang Liang

6

1 reference

8 January 2018

Dongming Guo

7

1 reference

8 January 2018

Xin Li

8

1 reference

8 January 2018

Jun Tai

9

1 reference

8 January 2018

Geng Chen

10

1 reference

8 January 2018

Yaqiong Jin

11

1 reference

8 January 2018

Zhimei Liu

12

1 reference

8 January 2018

Xin Ni

13

1 reference

8 January 2018

Tieliu Shi

14

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8 January 2018

language of work or name

English

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publication date

2 November 2017

1 reference

8 January 2018

published in

Nucleic Acids Research

1 reference

8 January 2018

Creative Commons Attribution-NonCommercial 4.0 International

copyright license

start time

1 November 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma

23 May 2018

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Towards efficiency in rare disease research: what is distinctive and important?

23 May 2018

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Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.

23 May 2018

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The clinical and genetic characteristics in children with mitochondrial disease in China

23 May 2018

1 reference

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DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome.

23 May 2018

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Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations

23 May 2018

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23 May 2018

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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

23 May 2018

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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

23 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

23 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

UniProt: the universal protein knowledgebase

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

The Human Phenotype Ontology in 2017

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Data quality in rare cancers registration: the report of the RARECARE data quality study

23 May 2018

1 reference

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Potential Reuse of Oncology Drugs in the Treatment of Rare Diseases

23 May 2018

1 reference

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Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

ClinVar: public archive of interpretations of clinically relevant variants

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

UniProtKB/Swiss-Prot, the Manually Annotated Section of the UniProt KnowledgeBase: How to Use the Entry View

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

DISEASES: Text mining and data integration of disease–gene associations

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Human symptoms-disease network

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

DiseaseConnect: a comprehensive web server for mechanism-based disease-disease connections

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

eXtasy: variant prioritization by genomic data fusion.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

PharmGKB: the Pharmacogenomics Knowledge Base

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Rare diseases and now rare data?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Deep phenotyping for precision medicine

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Integration of global resources for human genetic variation and disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

UniProt Knowledgebase: a hub of integrated protein data

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

The UMLS-CORE project: a study of the problem list terminologies used in large healthcare institutions

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Clinical research for rare disease: opportunities, challenges, and solutions

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Network-based global inference of human disease genes

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

The human phenome project

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Lexical methods for managing variation in biomedical terminologies

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Industrializing rare disease therapy discovery and development.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Rare inherited skin diseases and the Genomics England 100 000 Genome Project.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

Structural network analysis of biological networks for assessment of potential disease model organisms

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753383

The challenge and promise of rare disease diagnosis in China

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29106618

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKX1062

1 reference

8 January 2018

journals/nar/JiaAMGLLGLTCJLN18

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

8 January 2018

PubMed ID

29106618

1 reference

8 January 2018