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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease 0.500 strong 0.944 0 0 1995 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease 0.420 1.000 0 0 1998 2002
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 0 0 1987 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.410 1.000 0 0 2002 2002
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0 1994 1994
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
disease 0.400 strong 0 0 2001 2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.200 0.923 0 0 1994 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group 0.200 1.000 0 0 1998 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease 0.200 0.929 0 0 1997 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis
disease 0.180 1.000 0 0 1997 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
Transitional cell carcinoma of bladder
disease 0.130 0.667 0 0 2009 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.120 1.000 0 0 2013 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group 0.120 1.000 0 0 2018 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
Sensorineural Hearing Loss (disorder)
disease 0.120 1.000 0 0 2009 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 1.000 0 0 2006 2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease 0.120 0.500 0 0 2011 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis
disease 0.120 1.000 0 0 2001 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.110 1.000 0 0 1998 1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease 0.110 1.000 0 0 1999 1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic
phenotype 0.110 1.000 0 0 1998 1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
disease 0.110 1.000 0 0 2007 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.110 1.000 0 0 2008 2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
group 0.110 1.000 0 0 2018 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition
disease 0.110 1.000 0 0 1998 1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
phenotype 0.100 0 0