Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation UNIPROT A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 9042914

1997
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 8841188

1996
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 Biomarker CTD_human