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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 31 1.000 None 0.983 21 26 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 2 13 0.970 None 1.000 8 13 1994 2017
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 1 0.880 None 1.000 6 1 1997 2013
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 38 0.800 None 1.000 23 36 1994 2019
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 14 0.800 None 0.976 19 14 1994 2019
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 15 0.760 strong 1.000 10 13 1994 2017
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 29 0.740 strong 1.000 8 9 1997 2016
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 2 10 0.740 None 1.000 7 10 1996 2017
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 32 0.730 strong 1.000 5 13 1996 2019
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		disease Disease or Syndrome 1 10 0.730 strong 1.000 3 10 2006 2019
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 9 0.700 strong 1.000 4 9 1996 2016
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 33 0.700 strong 0.956 4 7 1995 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1074 1390 0.700 None 0.942 3 11 1991 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 300 14 0.700 None 0.957 2 1996 2019
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.700 None 1.000 1 1994 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 72 99 0.700 None 0.964 1 2 2007 2019
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 32 248 0.630 None 0.750 0 3 2013 2016
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 297 47 0.620 None 1.000 2 9 2007 2012
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 21 44 0.600 strong 0.957 1 1996 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 316 0.500 None 0.950 3 4 1991 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 538 763 0.500 None 0.943 3 14 1996 2020
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 206 404 0.440 None 0.833 0 5 2008 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 81 109 0.430 None 1.000 2 1996 2018
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 0.410 None 1.000 3 1996 2006
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 4 0.410 None 1.000 3 1 1996 2010