Source: GENOMICS_ENGLAND

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 0.391 0.846 1.6E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		disease 1.000 None 1.000 5 0 1994 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 4 0 1994 2020
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		disease 0.800 None 1.000 3 0 1994 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		disease 0.800 None 0.972 3 0 1995 2020
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease 0.800 None 1.000 1 0 1996 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease 0.800 strong 0.941 1 0 1995 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		disease 0.780 None 1.000 5 0 1994 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		disease 0.720 None 1.000 2 0 1995 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		disease 0.710 None 1.000 3 0 1995 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.410 None 1.000 0 0 2015 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.400 strong 1.000 1 0 2006 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.400 strong 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.320 moderate 1.000 1 0 2007 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease 0.310 moderate 1.000 1 0 2007 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		disease 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 strong 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0