Additional file 3: Figure S3. of A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Validation of global map visualization via clustering of phenotype, genotype, and known disease class spectra. (A) Disease spectrum for the gene FGFR2 (9 OMIM diseases). (B) Disease spectrum for the phenotype “Craniosynostosis” (47 OMIM diseases). Note that seven diseases with this phenotype are also in the FGFR2 spectrum. (C) HDN class “Ophthalmological” (broad eye diseases). (D) OMIM Phenotypic Series “Night Blindness, Congenital Stationary” (specific eye diseases). (E) HDN class “Skeletal” (broad bone diseases). (F) OMIM Phenotypic Series “Epiphyseal dysplasia, multiple” (specific bone diseases). (PDF 1628 kb)