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: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease 0.700 strong 0.941 0 0 1995 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease 0.640 None 0.750 0 0 2000 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease 0.620 None 1.000 0 0 2003 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease 0.450 None 0.833 0 0 2004 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease 0.430 None 1.000 0 0 2007 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
disease 0.420 None 1.000 0 0 2012 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease 0.410 None 1.000 0 0 2009 2009
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.400 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease 0.400 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0028754
Disease: Obesity
Obesity
disease 0.360 None 1.000 0 0 2011 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease 0.200 None 1.000 0 0 2004 2020
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.140 None 1.000 0 0 2008 2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
disease 0.130 None 1.000 0 0 2012 2014
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease 0.120 None 1.000 0 0 2005 2008
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.120 None 1.000 0 0 2016 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
phenotype 0.110 None 0.500 0 0 2006 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
Sensorineural Hearing Loss (disorder)
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease 0.110 None < 0.001 0 0 2008 2008
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0020488
Disease: Hypernatremia
Hypernatremia
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease 0.110 None < 0.001 0 0 2017 2017