FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 82; N. variants: 76
Source: CLINVAR ×
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.400 None 1.000 26 2 1985 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 81 93 0.100 None 1.000 26 1 1985 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 26 2 1985 2017
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 14 0.800 None 0.976 24 14 1994 2019
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 13 0.970 None 1.000 23 13 1994 2017
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 34 0.800 None 1.000 14 32 1994 2019
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 30 1.000 None 0.983 14 25 1994 2019
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		disease Neoplastic Process 3 12 0.100 None 1.000 4 10 2008 2013
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 13 0.400 None 1.000 3 10 2007 2014
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 30 188 0.140 None 1.000 1 4 2014 2017
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 12 80 0.100 None 1.000 1 1 2016 2016
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 26 152 0.100 None 1.000 1 8 2016 2016
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 16 102 0.110 None 1.000 1 3 2009 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 37 211 0.440 None 0.833 1 4 2008 2019
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 22 135 0.630 None 0.750 1 2 2013 2016
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		group Neoplasms Neoplastic Process 4 6 0.400 None 1.000 1 1 2013 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 34 314 0.500 None 0.950 1 4 1991 2016
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		group Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 6 17 0.100 None 1.000 1 4 2016 2016
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 1 0.880 None 1.000 1 1 1997 2013
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 13 0.100 None 0 2
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 27 34 0.100 None 0 1
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 11 13 0.100 None 0 2
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 23 25 0.100 None 0 1
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 5 6 0.100 None 0 2