Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker CLINGEN Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. 14699054

2004
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker CLINGEN A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. 10200283

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker CLINGEN Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. 9811582

1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker CLINGEN Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker CLINGEN Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. 7913883

1994