Data · dataset · 2019
Gene-RD-Provenance_V1
Listed in DataCite
In this dataset we provide monogenic, rare diseases (OMIM identifier) with a known genetic cause (HGNC, Ensembl) supplemented with manually extracted provenance of both the disease and the discovery of the underlying genetic cause of the disease (PMID).
Links
Where it is published
- Repository landing page figshare.com/articles/Gene-RD-Provenance_V1/7718492/1 ↗
landing page · from DataCite
- DOI doi.org/10.6084/m9.figshare.7718492.v1 ↗
DOI / persistent id · from DataCite
Documentation and papers
Catalogue records · 2
- DataCite API api.datacite.org/dois/10.6084/m9.figshare.7718492.v1 ↗
metadata API · from DataCite
- DataCite Commons commons.datacite.org/doi.org/10.6084/m9.figshare.7718492.v1 ↗
catalogue entry · from DataCite
Topics
- Stated by source
- Basic medicine · Biological sciences · Computer and information sciences
- From keywords
- Bioinformatics and computational biology · Genetics
- Inferred from text
- Disease 75%
Related
- same asGene-RD-Provenance_V1
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| DataCite | 10.6084/m9.figshare.7718492.v1 | 10 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| byte_size | source · DataCite | connector:datacite@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · DataCite | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].fos:basic-medicine | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:biological-sciences | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:computer-and-information-sciences | source · DataCite | connector:datacite@1.0.0 | |
| created_date | source · DataCite | connector:datacite@1.0.0 | |
| description | source · DataCite | connector:datacite@1.0.0 | /data/attributes/descriptions |
| license | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| publication_date | source · DataCite | connector:datacite@1.0.0 | /data/attributes/dates |
| title | source · DataCite | connector:datacite@1.0.0 | /data/attributes/titles/0/title |
| updated_date | source · DataCite | connector:datacite@1.0.0 |