FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.120 GeneticVariation disease BEFREE The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1. 29771000 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.120 GeneticVariation disease BEFREE Three FGFR1 mutations seen in HPE probands behave identical to wild-type FGFR1 in rescue assays, including one apparent de novo variation. 26931467 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.120 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.120 GeneticVariation disease CLINVAR
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.120 CausalMutation disease CLINVAR