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: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.130 GeneticVariation BEFREE As rare abnormalities, we identified a submicroscopic deletion involving FGFR1 and an SOX3 polyalanine deletion in patients with IHH, and a WDR11 splice site mutation in a patient with CPHD. 25064402

2014
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.130 Biomarker BEFREE The patient was identified through copy-number analyses and direct sequencing of FGFR1 performed for 69 patients with CPHD. 23657145

2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.130 GeneticVariation BEFREE A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). 22319038

2012
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.130 Biomarker HPO