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Orphanet specifications


Unique identifier OMICS_15073
Name Orphanet
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes


  • person_outline Sonia Pavan

Publication for Orphanet

Orphanet citations


Large scale computational drug repositioning to find treatments for rare diseases

NPJ Syst Biol Appl
PMCID: 5847522
PMID: 29560273
DOI: 10.1038/s41540-018-0050-7

[…] y aligned onto the target protein with Fr-TM-align and then the drug molecule was superposed onto the most similar template-bound ligand according to the chemical alignment constructed by KCOMBU. The Orphanet dataset comprises 922 proteins, whereas the DrugBank dataset contains 2012 drug-protein complexes formed by 715 drugs and 348 proteins. […]


Whole exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population

Nat Commun
PMCID: 5780481
PMID: 29362361
DOI: 10.1038/s41467-017-01972-9

[…] the 21 loci for known eQTLs and disease or pharmacological associations using several databases (biological details are in Supplementary Data ): GTEx portal (version 2.1, Build #201), OMIM database, Orphanet disease database, CHEMBL targets database, PharmaGKB and SNIPA (see URLs in Methods). We found that seven sentinel SNPs are in genes encoding enzymes or transporters. Additionally, 16 sentine […]


Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Nat Commun
PMCID: 5635015
PMID: 29018201
DOI: 10.1038/s41467-017-00932-7
call_split See protocol

[…] ATHMM, VEST, MetaSVM, and MetaLR, of the affected site. In addition phenotype genotype correlations were investigated using public database Online Mendelian Inheritance (OMIM) (http://www.omim.org/), Orphanet (http://www.orpha.net) and ClinVar (https://www.ncbi.nlm.nih.gov/clinvar).Whole exome sequencing of patients 2 and 3 was performed at GeneDx. Genomic DNA was extracted from whole blood from a […]


MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers

J Med Internet Res
PMCID: 5493784
PMID: 28623182
DOI: 10.2196/jmir.6676

[…] es and 14,000 genetic diseases) up to date and generate a news flow (more than 1 million news items were created in the last year) by exploiting public (Ensembl [], NCBI, Uniprot [], HPO [], OMIM [], Orphanet [], OrthoInspector [], etc) and in-house data resources. All data retrieved or processed by MyGeneFriends and related to genes and diseases are “public,” whereas data submitted by humans are […]


Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

Sci Rep
PMCID: 5431949
PMID: 28496102
DOI: 10.1038/s41598-017-01896-w

[…] henotype of interest, we used Human Phenotype Ontology (HPO) terms associated with structural heart defects.Briefly, PhenogramViz integrates data from different sources (including OMIM, MGI, ZFIN and Orphanet) with the selected HPO terms and then ranks CNVs according to pathogenicity. For this study, the CNV located in chr17:44176984-44272000 ranked as number one because it was the only pathogenic […]


Large scale detection of drug off targets: hypotheses for drug repurposing and understanding side effects

PMCID: 5408384
PMID: 28449705
DOI: 10.1186/s40360-017-0128-7

[…] rombocytopenia. Another potential cross-reactivity target found at rank 3 (1FV1_7, Tanimoto coefficient 0.3248, Z-score 3.01) is the alpha chain of the major histocompatibility complex. The data from Orphanet show that the protein is associated to the Graham Little-Piccardi-Lassueur syndrome, which is a disease characterized by cicatricial alopecia of the scalp and noncicatricial alopecia of the a […]


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Orphanet institution(s)
Inserm, US14 - Orphanet, Paris, France; Orphanet Germany, Centre for Rare Diseases, Hannover Medical School, Hannover, Germany; Orphanet Spain, CIBERER, Valencia, Spain
Orphanet funding source(s)
This work was supported by funds from the French Directorate General for Health and from the European Commission Directorate-General for Health and Consumers (Orphanet Europe Joint Action grant #20102206 and Orphanet Operating grant #20133305-INSERM_FY2014).

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