Source: INFERRED

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: C0027651
Disease: Neoplasms
Neoplasms 		group 0.200 None 0.964 1 2 1994 2020
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		group 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype 0.100 None 1.000 1 1 2019 2019
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 1 2 2006 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		phenotype 0.100 None 1.000 1 3 2016 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0