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: 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: 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: 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: 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: 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: C1852411
Disease: Preauricular skin furrow
Preauricular skin furrow 		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: C1852407
Disease: Prominent scrotal raphe
Prominent scrotal raphe 		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: C1851797
Disease: Palmoplantar cutis gyrata
Palmoplantar cutis gyrata 		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: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		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: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		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: C1849227
Disease: Cleft of chin
Cleft of chin 		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: C1849089
Disease: Broad forehead
Broad forehead 		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: C1849020
Disease: Short metatarsal
Short metatarsal 		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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		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: C1856714
Disease: Palmoplantar cutis laxa
Palmoplantar cutis laxa 		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: 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: 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: 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: 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: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype 0.100 None 0 0