FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
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 26 2 1985 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 26 1 1985 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 24 1999 2019
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.160 None 1.000 7 2 2008 2017
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
disease Disease or Syndrome 3 10 0.730 strong 1.000 6 10 2006 2019
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma
disease Neoplastic Process 7 12 0.100 None 1.000 4 10 2008 2013
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.040 None 1.000 4 2011 2019
CUI: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia
disease Disease or Syndrome 1 0.030 None 1.000 3 2012 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2 1995 2013
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.020 None 1.000 2 2010 2017
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group Anatomical Abnormality 37 3 0.020 None 1.000 2 1999 2004
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.020 None 1.000 2 2000 2017
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.020 None 1.000 2 2014 2014
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2012 2015
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
disease Neoplastic Process 398 7 0.020 None 1.000 2 1997 2018
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma
disease Neoplastic Process 103 7 0.020 None 1.000 2 1 2014 2015
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.020 None 1.000 2 1 2011 2013
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 1 2013 2013
Prostate specific antigen measurement
phenotype Laboratory Procedure 25 95 0.100 None 1.000 1 1 2017 2017
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2009 2009
CUI: C0263417
Disease: Cutis verticis gyrata
Cutis verticis gyrata
disease Disease or Syndrome 4 1 0.010 None 1.000 1 2010 2010
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2015 2015
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None 1.000 1 2018 2018
CUI: C0332877
Disease: Congenital premature fusion
Congenital premature fusion
disease Congenital Abnormality 6 1 0.010 None 1.000 1 1 2008 2008
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2014 2014