FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 93; N. variants: 98
Source: CURATED ×
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: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 41 11 0.410 strong 1.000 1 2006 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.410 None 1.000 1 2006 2012
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 18 0.400 None 1.000 3 1996 2006
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 6 0.400 None 1.000 3 1996 2006
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.400 None 1.000 3 1996 2006
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 58 30 0.400 None 1.000 1 10 2007 2014
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 26 2 0.400 None 1.000 1 2013 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 24 0.400 None 1.000 1 2014 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 17 350 0.400 None 1.000 1 2 1985 2017
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		disease Finding 1 1 0.400 strong 1.000 1 1 2016 2016
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		disease Neoplasms Neoplastic Process 23 65 0.400 None 1.000 0 1 2016 2016
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 0.400 None 0.950 0 2008 2019
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		group Neoplasms Neoplastic Process 33 11 0.400 None 1.000 0 1 2013 2013
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 3 0.400 strong 0
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 156 132 0.360 None 1.000 0 2008 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 266 173 0.340 None 1.000 1 2007 2018
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 42 17 0.330 None 1.000 2 1996 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 156 0.320 None 1.000 3 1996 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.320 None 0.667 3 2009 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 103 20 0.320 None 1.000 1 2007 2014
CUI: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 2 9 0.320 None 1.000 1 1998 2005
CUI: C1153706
Disease: Endometrial adenocarcinoma
Endometrial adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 4 0.320 None 1.000 0 1997 2018
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 24 0.310 None 1.000 1 2015 2017
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 13 7 0.310 None 1.000 1 2000 2012
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 39 253 0.310 None 1.000 1 2007 2017