Schema for GeneReviews - GeneReviews
  Database: hg18    Primary Table: geneReviews Data last updated: 2021-10-19
Big Bed File: /gbdb/hg18/geneReviews/geneReviews.bb
Item Count: 1,598
Format description: GeneReviews gene location and diseases. BED 9+2.
fieldexampledescription
chromchr1Reference sequence chromosome or scaffold
chromStart167699772Start position in chromosome
chromEnd167721832End position in chromosome
nameSLC19A2Gene symbol
score0Score from 0-1000
strand..
thickStart167699772Start position
thickEnd167721832End 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
chr1167699772167721832SLC19A20.16769977216772183201Thiamine-Responsive Megaloblastic Anemia Syndrome
chr1167747815167822393F50.16774781516782239301Factor V Leiden Thrombophilia
chr1169326659169353583FMO30.16932665916935358301Primary Trimethylaminuria
chr1170894807170902635FASLG0.17089480717090263501Autoimmune Lymphoproliferative Syndrome
chr1172060580172094305DARS20.17206058017209430501Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
chr1178867795179122103XPR10.17886779517912210301Primary Familial Brain Calcification
chr1181421796181480885LAMC20.18142179618148088501Junctional Epidermolysis Bullosa
chr1181791319181826669NCF20.18179131918182666901Chronic Granulomatous Disease
chr1191357783191487679CDC730.19135778319148767902Wilms Tumor Predisposition; CDC73-Related Disorders
chr1194887630194983257CFH0.19488763019498325702Genetic 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.