FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036631
Disease: Seminoma
Seminoma
0.510 Biomarker disease CTD_human Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. 19855393 2009
CUI: C0036631
Disease: Seminoma
Seminoma
0.510 GeneticVariation disease UNIPROT Most spermatocytic seminomas show increased immunoreactivity for FGFR3 and/or HRAS. 19855393 2009
CUI: C0036631
Disease: Seminoma
Seminoma
0.510 Biomarker disease CTD_human Most spermatocytic seminomas show increased immunoreactivity for FGFR3 and/or HRAS. 19855393 2009
CUI: C0036631
Disease: Seminoma
Seminoma
0.510 Biomarker disease BEFREE Most spermatocytic seminomas show increased immunoreactivity for FGFR3 and/or HRAS. 19855393 2009
CUI: C0036631
Disease: Seminoma
Seminoma
0.510 GeneticVariation disease UNIPROT Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. 19855393 2009