FGFR4, fibroblast growth factor receptor 4, 2264

N. diseases: 220; N. variants: 19
Disease: Rhabdomyosarcoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519793
rs1057519793
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
CUI: C0035412
Disease:
Rhabdomyosarcoma 		0.710 GeneticVariation BEFREE Previous report has demonstrated the type-II inhibitor ponatinib is the most potentially effective agent for RMS but still hard to starboard the V550E/L mutants. 31128178 2019
dbSNP: rs1057519793
rs1057519793
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
CUI: C0035412
Disease:
Rhabdomyosarcoma 		A 0.710 GeneticVariation CLINVAR Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 24124571 2013
dbSNP: rs1057519793
rs1057519793
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
CUI: C0035412
Disease:
Rhabdomyosarcoma 		A 0.710 GeneticVariation CLINVAR Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. 19809159 2009
dbSNP: rs1057519792
rs1057519792
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
CUI: C0035412
Disease:
Rhabdomyosarcoma 		A 0.700 GeneticVariation CLINVAR Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 24124571 2013
dbSNP: rs1057519792
rs1057519792
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
CUI: C0035412
Disease:
Rhabdomyosarcoma 		G 0.700 GeneticVariation CLINVAR Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 24124571 2013
dbSNP: rs766121173
rs766121173
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
CUI: C0035412
Disease:
Rhabdomyosarcoma 		0.010 GeneticVariation BEFREE The V550E/L and N535D/K mutations of FGFR4 in RMS can lead to strong drug resistance to almost all of the type-I inhibitors. 31128178 2019