Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.120 GeneticVariation disease BEFREE The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1. 29771000 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.120 GeneticVariation disease BEFREE Three FGFR1 mutations seen in HPE probands behave identical to wild-type FGFR1 in rescue assays, including one apparent de novo variation. 26931467 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.120 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.120 GeneticVariation disease CLINVAR
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.120 CausalMutation disease CLINVAR