Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1856136
Disease: Conical incisor
Conical incisor 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1856912
Disease: Shortening of all middle phalanges of the fingers
Shortening of all middle phalanges of the fingers 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1857485
Disease: Flat forehead
Flat forehead 		phenotype 0.100 None 0 0