Schema for GeneReviews - GeneReviews
  Database: hg38    Primary Table: geneReviews Data last updated: 2020-11-17
Big Bed File: /gbdb/hg38/geneReviews/geneReviews.bb
Item Count: 1,696
Format description: GeneReviews gene location and diseases. BED 9+2.
fieldexampledescription
chromchr1Reference sequence chromosome or scaffold
chromStart169463908Start position in chromosome
chromEnd169485944End position in chromosome
nameSLC19A2Gene symbol
score0Score from 0-1000
strand..
thickStart169463908Start position
thickEnd169485944End 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
chr1169463908169485944SLC19A20.16946390816948594401Thiamine-Responsive Megaloblastic Anemia Syndrome
chr1169511950169586481F50.16951195016958648101Factor V Leiden Thrombophilia
chr1171090904171117819FMO30.17109090417111781901Primary Trimethylaminuria
chr1172659102172666876FASLG0.17265910217266687601Autoimmune Lymphoproliferative Syndrome
chr1173824660173858808DARS20.17382466017385880801Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
chr1180632021180890279XPR10.18063202118089027901Primary Familial Brain Calcification
chr1183186263183245127LAMC20.18318626318324512701Junctional Epidermolysis Bullosa
chr1183555562183590876NCF20.18355556218359087601Chronic Granulomatous Disease
chr1193122030193254815CDC730.19312203019325481502Wilms Tumor Predisposition; CDC73-Related Disorders
chr1196652042196747504CFH0.19665204219674750402Genetic 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.

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.