FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 Biomarker disease HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 Biomarker phenotype BEFREE We carried out a large scale case-control study to test the association between FGFR2 and three major psychiatric disorders: SCZ, BPD and major depressive disorder (MDD) in the Chinese Han population. 22404656 2012
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
0.100 CausalMutation group CLINVAR
Abnormal form of the vertebral bodies
0.100 Biomarker phenotype HPO
Abnormal morphology of the limbic system
0.100 Biomarker phenotype HPO
Abnormal nasolacrimal system morphology
0.100 Biomarker disease HPO
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
0.100 Biomarker disease HPO
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
0.100 Biomarker disease HPO
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
0.100 Biomarker disease HPO
Abnormal shape of the frontal region
0.100 CausalMutation phenotype CLINVAR
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
0.100 Biomarker phenotype HPO
Abnormality of cardiovascular system morphology
0.100 Biomarker disease HPO
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology
0.100 Biomarker disease HPO
Abnormality of pelvic girdle bone morphology
0.100 Biomarker disease HPO
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
0.100 Biomarker disease HPO
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
0.100 Biomarker phenotype HPO
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx
0.100 Biomarker disease HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
0.100 Biomarker disease HPO
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
0.100 Biomarker disease HPO
CUI: C4073134
Disease: Abnormality of the periosteum
Abnormality of the periosteum
0.100 Biomarker disease HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
0.100 Biomarker phenotype HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
0.100 GeneticVariation phenotype CLINVAR
Abnormality of the posterior cranial fossa
0.100 GeneticVariation phenotype CLINVAR
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
0.100 Biomarker disease HPO
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull
0.030 GeneticVariation phenotype BEFREE Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development. 28650109 2017