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: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.410 strong 1.000 2 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 2165 159 0.410 None 1.000 2 2006 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.400 None 1.000 27 2 1985 2017
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.400 None 0.950 20 4 2008 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 470 19 0.400 None 1.000 18 2014 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.400 None 1.000 12 2013 2019
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.400 None 1.000 4 10 2007 2014
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.400 None 1.000 3 1996 2006
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 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 52 7 0.400 None 1.000 3 1996 2006
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
group Neoplasms Neoplastic Process 124 11 0.400 None 1.000 1 1 2013 2013
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 143 65 0.400 None 1.000 1 1 2016 2016
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.400 strong 0
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.360 None 1.000 6 2008 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.340 None 1.000 5 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 295 70 0.330 None 1.000 4 1 1996 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.320 None 1.000 5 1 1996 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 0.667 3 2009 2012
Antley-Bixler Syndrome with Disordered Steroidogenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 6 10 0.320 None 1.000 3 1998 2005
CUI: C1153706
Disease: Endometrial adenocarcinoma
Endometrial adenocarcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 212 5 0.320 None 1.000 2 1997 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.320 None 1.000 2 2007 2014
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.310 None 1.000 2 2007 2017
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 119 3 0.310 None 1.000 2 2015 2017
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.310 None 1.000 2 2000 2012