FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Familial scaphocephaly syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3267076
Disease: Familial scaphocephaly syndrome
Familial scaphocephaly syndrome 		0.300 Biomarker phenotype GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017