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: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1405984
Disease: Absent radius
Absent radius 		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: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		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: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis 		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: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		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: 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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: 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: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		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: C0576226
Disease: Short foot
Short foot 		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: C0575802
Disease: Small hand
Small hand 		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: C3150931
Disease: Steep acetabular roof
Steep acetabular roof 		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: C0566899
Disease: Small labia majora
Small labia majora 		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: 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: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		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: C0546297
Disease: Hallux Varus
Hallux Varus 		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: C0702166
Disease: Acne
Acne 		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: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		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: C1398312
Disease: Narrow palate
Narrow palate 		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: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		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: C1384666
Disease: hearing impairment
hearing impairment 		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: C1867103
Disease: Limited elbow extension
Limited elbow extension 		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: C1321884
Disease: Atresia of vagina
Atresia of vagina 		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: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		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: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		phenotype 0.100 None 0 0