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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.020 None 1.000 2 2010 2017
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 2017 2017
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		group Anatomical Abnormality 37 3 0.020 None 1.000 2 1999 2004
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.020 None 0.500 2 1 2008 2019
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.210 None 1.000 2 2015 2016
CUI: C0031094
Disease: Periodontal Pocket
Periodontal Pocket 		disease Stomatognathic Diseases Anatomical Abnormality 28 0.010 None 1.000 1 2005 2005
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.300 None 1.000 1 2000 2000
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality 80 0.200 None 1.000 1 2004 2004
CUI: C0333113
Disease: Sacculation
Sacculation 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 14 0.010 None 1.000 1 2005 2005
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: C1857456
Disease: Morphological abnormality of the middle ear
Morphological abnormality of the middle ear 		phenotype Anatomical Abnormality 6 0.010 None 1.000 1 2019 2019
CUI: C4082954
Disease: Hypoplasia of right ventricle
Hypoplasia of right ventricle 		phenotype Anatomical Abnormality 4 0.010 None 1.000 1 2006 2006
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2017 2017
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.100 None 0
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0 1
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 4 1 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0 1
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		disease Anatomical Abnormality 55 5 0.100 None 0