Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		0.610 GeneticVariation BEFREE Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. 16526918

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		0.610 Biomarker GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		0.610 GeneticVariation UNIPROT An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 11173846

2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		0.610 GeneticVariation CLINVAR