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: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 1 1 0.100 None 0 1
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: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 9 9 0.100 None 0 1
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
Abnormality of the posterior cranial fossa 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
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: 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: 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 1 10 0.740 None 1.000 0 10 1996 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: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		disease Disease or Syndrome 1 10 0.730 strong 1.000 0 10 2006 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 39 0.100 None 0 1
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 1 2 0.100 None 0 2
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 11 13 0.100 None 0 2
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 9 14 0.100 None 0 1
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 9 11 0.100 None 0 1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 46 66 0.100 None 0 1
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		phenotype Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Finding 1 2 0.100 None 0 2
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 5 5 0.100 None 0 1
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 3 3 0.100 None 0 1
CUI: C0238506
Disease: Congenital posterior urethral valves
Congenital posterior urethral valves 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 8 8 0.100 None 0 1
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		phenotype Finding 3 3 0.100 None 0 1
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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 13 33 0.700 strong 0.956 1 7 1995 2019
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		disease Finding 1 1 0.100 None 0 1