FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 34 1 1985 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2003 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.030 None 1.000 3 2006 2010
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 2003 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2 1996 1999
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		disease Anatomical Abnormality 5 1 0.030 None 0.667 3 1 1998 2008
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.030 None 1.000 3 2000 2017
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.020 None 1.000 2 1996 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 1 2006 2009
CUI: C4725076
Disease: Advanced Urothelial Carcinoma
Advanced Urothelial Carcinoma 		disease Neoplastic Process 18 0.020 None 1.000 2 2014 2016
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.010 None 1.000 1 2006 2006
CUI: C0243066
Disease: Atresia
Atresia 		disease Congenital Abnormality 44 1 0.010 None 1.000 1 1 2000 2000
CUI: C0522618
Disease: Focal dysplasia
Focal dysplasia 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 1 2014 2014
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		disease Disease or Syndrome 94 5 0.010 None 1.000 1 2019 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2019 2019
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		disease Disease or Syndrome 20 1 0.010 None 1.000 1 1 2012 2012
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 1997 1997
CUI: C1266010
Disease: Papillary transitional cell neoplasm of low malignant potential
Papillary transitional cell neoplasm of low malignant potential 		disease Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C1275859
Disease: Transitional cell dysplasia
Transitional cell dysplasia 		disease Neoplastic Process 5 0.010 None 1.000 1 2011 2011
CUI: C1283397
Disease: Deficiency of acetylcholinesterase
Deficiency of acetylcholinesterase 		disease Disease or Syndrome 5 0.010 None 1.000 1 1997 1997
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.010 None 1.000 1 2009 2009
CUI: C1334282
Disease: Inverted urothelial papilloma
Inverted urothelial papilloma 		disease Neoplastic Process 2 3 0.010 None 1.000 1 2009 2009
CUI: C1541567
Disease: Adult Oligodendroglial Tumor
Adult Oligodendroglial Tumor 		disease Neoplastic Process 14 2 0.010 None 1.000 1 2017 2017
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		disease Anatomical Abnormality 12 4 0.010 None 1.000 1 2012 2012