Source: ALL

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: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		disease 0.800 None 0.972 72 23 1995 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 78 16 1994 2019
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 17 15 1995 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.200 None 0.975 81 13 1995 2017
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 0.974 152 12 1994 2020
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease 0.800 None 0.979 94 10 1999 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.200 None 1.000 42 10 1994 2019
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 6 10 1995 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		disease 0.600 None 1.000 66 9 1995 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		disease 0.500 None 1.000 17 9 2005 2018
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 15 9 1996 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 5 9 1995 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group 0.200 None 1.000 34 8 1998 2019
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 16 8 1994 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.660 None 1.000 6 8 2000 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease 0.500 None 0.979 94 7 2001 2019
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 27 7 1994 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		disease 0.690 None 1.000 9 7 2006 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.200 None 0.978 138 6 1995 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease 0.460 None 1.000 6 6 2001 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		disease 0.100 None 0 6
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease 0.200 None 1.000 21 5 1999 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease 0.200 None 1.000 24 4 1996 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group 0.200 None 1.000 22 4 1999 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 4