FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.410 Biomarker disease BEFREE At present, the list of genes involved in human non-syndromic hypodontia includes not only those encoding a signaling molecule (TGFA) and transcription factors (MSX1 and PAX9) that play critical roles during early craniofacial development, but also genes coding for a protein involved in canonical Wnt signaling (AXIN2), and a transmembrane receptor of fibroblast growth factors (FGFR1). 18771513 2009
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.410 GermlineCausalMutation disease ORPHANET
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.410 Biomarker disease HPO