Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2246
Gene Symbol: FGF1
FGF1
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.030 Biomarker BEFREE Gain-of-function variants in several FGF receptors (FGFRs) are implicated in a wide spectrum of growth disorders from achondroplasia to overgrowth syndromes. 26660953

2016
Entrez Id: 2246
Gene Symbol: FGF1
FGF1
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.030 GeneticVariation BEFREE Here we use quantitative Fӧster Resonance Energy Transfer (FRET) and osmotically derived plasma membrane vesicles to study the effect of the achondroplasia mutation on the early stages of FGFR3 signaling in response to the ligands fgf1 and fgf2. 27040652

2016
Entrez Id: 2246
Gene Symbol: FGF1
FGF1
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.030 AlteredExpression BEFREE TDI-FGFR3 was not highly phosphorylated under ligand-free conditions, but the peak phosphorylation levels of TDI-FGFR3 and ACH-FGFR3 were maintained for 30 min after stimulation with FGF-1. 17561467

2007