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: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease 0.700 strong 0.956 0 0 1995 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease 0.700 None 0.957 0 0 1996 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
disease 0.700 None 1.000 0 0 1994 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.500 None 0.943 0 0 1996 2020
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease 0.430 None 1.000 0 0 1996 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 0 0 2006 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
disease 0.410 None 1.000 0 0 1996 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.410 strong 1.000 0 0 2006 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease 0.400 None 1.000 0 0 1996 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 1.000 0 0 1996 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius
disease 0.400 strong 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
disease 0.400 None 1.000 0 0 1996 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.160 None 1.000 0 0 2007 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease 0.120 None 1.000 0 0 1995 2010
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 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: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group 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: C2930865
Disease: Ramer Ladda syndrome
Ramer Ladda syndrome
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: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.110 None < 0.001 0 0 2015 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.110 None 1.000 0 0 1997 1997
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
disease 0.110 None 1.000 0 0 2018 2018