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: C0025490
Disease: Mesonephroma
Mesonephroma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 3 0.010 None 1.000 1 1 2000 2000
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 2 0.300 None 1.000 1 1997 1997
CUI: C2350233
Disease: Antley-Bixler Syndrome Phenotype
Antley-Bixler Syndrome Phenotype 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 1.000 1 1998 1998
CUI: C3872820
Disease: Congenital pulmonary acinar dysplasia
Congenital pulmonary acinar dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 2 2 0.100 None 0 1
CUI: C1849227
Disease: Cleft of chin
Cleft of chin 		phenotype Finding 2 0.100 None 0
CUI: C1851797
Disease: Palmoplantar cutis gyrata
Palmoplantar cutis gyrata 		phenotype Finding 2 0.100 None 0
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea 		phenotype Finding 2 0.100 None 0
CUI: C1863382
Disease: Absent first metatarsal
Absent first metatarsal 		phenotype Finding 2 0.100 None 0
CUI: C1863406
Disease: Anomalous tracheal cartilage
Anomalous tracheal cartilage 		phenotype Finding 2 0.100 None 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 0
CUI: C3150931
Disease: Steep acetabular roof
Steep acetabular roof 		phenotype Finding 2 0.100 None 0
CUI: C4021360
Disease: Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 3rd finger 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4021365
Disease: Partial duplication of the distal phalanx of the 2nd finger
Partial duplication of the distal phalanx of the 2nd finger 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		phenotype Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C4025301
Disease: Cervical C5/C6 vertebrae fusion
Cervical C5/C6 vertebrae fusion 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 20 0.760 strong 1.000 33 17 1994 2017
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 1 0.880 None 1.000 17 1 1997 2013
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		disease Disease or Syndrome 3 10 0.730 strong 1.000 6 10 2006 2019
CUI: C0687154
Disease: Acrocephalopolysyndactyly
Acrocephalopolysyndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 2 2010 2010
CUI: C3850155
Disease: Congenital Microtia
Congenital Microtia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 1 2019 2019
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia 		phenotype Finding 3 0.100 None 0