Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.730 GeneticVariation UNIPROT Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 16470795

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.730 GeneticVariation UNIPROT We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth. 15625620

2005