Gephebase compiles genotype-phenotype relationships, i.e. associations between a mutation and a phenotypic variation. Gephebase consolidates data from the scientific literature about the genes and the mutations responsible for phenotypic variation in Eukaryotes (mostly animals, yeasts and plants). We plan to include non Eukaryote species in the future. For now, genes responsible for human disease and for aberrant mutant phenotypes in laboratory model organisms are excluded and can be found in other databases (OMIM, OMIA, FlyBase, etc.). QTL mapping studies that did not identify single genes are not included in Gephebase.
If you use Gephebase for your publication, please cite: Courtier-Orgogozo, V., Arnoult, L., Prigent, S. R., Wiltgen, S., & Martin, A. (2020). Gephebase, a database of genotype–phenotype relationships for natural and domesticated variation in Eukaryotes. Nucleic acids research, 48(D1), D696-D703.
LAST CURATED PAPERS
; Bauer A
; Jagannathan V
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.
Wijesena HR ; Schmutz SM 2015 May-Jun.
A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds.
Winkler PA ; Gornik KR ; Ramsey DT et al. 2014.
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.
WHAT'S NEW ?
Gephebase v.3.0 was launched on January 2019.
The new fields "Related Genes" and "Related Haplotypes" allow you to browse data related to your phenotype and taxon of interest.