Schema for GeneReviews - GeneReviews
  Database: hg19    Primary Table: geneReviews Data last updated: 2021-10-19
Big Bed File: /gbdb/hg19/geneReviews/geneReviews.bb
Item Count: 1,757
Format description: GeneReviews gene location and diseases. BED 9+2.
fieldexampledescription
chromchr1Reference sequence chromosome or scaffold
chromStart169433146Start position in chromosome
chromEnd169455182End position in chromosome
nameSLC19A2Gene symbol
score0Score from 0-1000
strand..
thickStart169433146Start position
thickEnd169455182End position
reserved0Used as itemRgb as of 2004-11-22
diseaseCount1Count of related diseases
diseasesThiamine-Responsive Megaloblastic Anemia SyndromeList of related diseases (semi-colon separated), for display

Sample Rows
 
chromchromStartchromEndnamescorestrandthickStartthickEndreserveddiseaseCountdiseases
chr1169433146169455182SLC19A20.16943314616945518201Thiamine-Responsive Megaloblastic Anemia Syndrome
chr1169481188169555719F50.16948118816955571901Factor V Leiden Thrombophilia
chr1171060045171086959FMO30.17106004517108695901Primary Trimethylaminuria
chr1172628242172636016FASLG0.17262824217263601601Autoimmune Lymphoproliferative Syndrome
chr1173793798173827946DARS20.17379379817382794601Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
chr1180601157180859415XPR10.18060115718085941501Primary Familial Brain Calcification
chr1183155398183214262LAMC20.18315539818321426201Junctional Epidermolysis Bullosa
chr1183524697183560011NCF20.18352469718356001101Chronic Granulomatous Disease
chr1193091160193223945CDC730.19309116019322394502Wilms Tumor Predisposition; CDC73-Related Disorders
chr1196621172196716634CFH0.19662117219671663402Genetic Atypical Hemolytic-Uremic Syndrome; C3 Glomerulopathy

GeneReviews (geneReviews) Track Description
 

Description

GeneReviews is an online collection of expert-authored, peer-reviewed articles that describe specific gene-related diseases. GeneReviews articles are searchable by disease name, gene symbol, protein name, author, or title. GeneReviews is supported by the National Institutes of Health, hosted at NCBI as part of the Genetic Testing Registry (GTR). The GeneReviews data underlying this track will be updated frequently.

The GeneReviews track allows the user to locate the NCBI GeneReviews resource quickly from the Genome Browser. Hovering the mouse on track items shows the gene symbol and associated diseases. A condensed version of the GeneReviews article name and its related diseases are displayed on the item details page as links. Similar information, when available, is provided in the details page of items from the UCSC Genes, RefSeq Genes, and OMIM Genes tracks.

Data Access

The raw data for the GeneReviews track can be explored interactively with the Table Browser. Cross-referencing can be done with Data Integrator. The complete source file, in bigBed format, can be downloaded from our downloads directory. For automated analysis, the data may be queried from our REST API.

Previous versions of this track can be found on our archive download server.

References

Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1116.