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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2014 2014
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer
disease Neoplastic Process 51 18 0.010 None 1.000 1 1 2014 2014
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
group Disease or Syndrome 62 2 0.010 None 1.000 1 2006 2006
CUI: C0814161
Disease: impaired motor coordination
impaired motor coordination
phenotype Sign or Symptom 21 2 0.010 None 1.000 1 2012 2012
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
disease Neoplastic Process 24 4 0.010 None 1.000 1 2011 2011
CUI: C1112160
Disease: Gastrooesophageal cancer
Gastrooesophageal cancer
disease Neoplastic Process 26 0.010 None 1.000 1 2019 2019
Metastasis from malignant tumor of prostate
disease Neoplastic Process 342 18 0.010 None 1.000 1 2019 2019
Estrogen Receptor Status - Clinical Trial Eligibility Criteria
phenotype Clinical Attribute 1 2 0.100 None 1.000 1 2 2016 2016
Cervical Keratinizing Squamous Cell Carcinoma
disease Neoplastic Process 1 0.010 None 1.000 1 2010 2010
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
disease Finding 166 374 0.100 None 1.000 1 1 2016 2016
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
phenotype Congenital Abnormality 63 5 0.010 None 1.000 1 2019 2019
Morphological abnormality of the middle ear
phenotype Anatomical Abnormality 6 0.010 None 1.000 1 2019 2019
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
disease Finding 1 1 0.400 strong 1.000 1 1 2016 2016
CUI: C2126063
Disease: Exophthalmos, bilateral
Exophthalmos, bilateral
phenotype Sign or Symptom 1 0.010 None 1.000 1 2010 2010
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
disease Finding 166 370 0.100 None 1.000 1 1 2016 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 1 1 2016 2016
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2017 2017
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease Finding 166 373 0.100 None 1.000 1 1 2016 2016
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma
disease Neoplastic Process 153 11 0.010 None 1.000 1 1 2015 2015
CUI: C4016282
Disease: BREAST CANCER, SOMATIC
BREAST CANCER, SOMATIC
disease Neoplastic Process 4 1 0.010 None 1.000 1 1 2013 2013
CUI: C4082954
Disease: Hypoplasia of right ventricle
Hypoplasia of right ventricle
phenotype Anatomical Abnormality 4 0.010 None 1.000 1 2006 2006
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2017 2017
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.010 None 1.000 1 2014 2014
progesterone receptor-positive breast cancer
disease Neoplastic Process 28 17 0.010 None 1.000 1 2011 2011
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer
disease Neoplastic Process 160 18 0.010 None 1.000 1 2016 2016