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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 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: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		disease Neoplastic Process 3 12 0.100 None 1.000 4 10 2008 2013
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: 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: 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: C4016344
Disease: PFEIFFER SYNDROME VARIANT
PFEIFFER SYNDROME VARIANT 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 11 13 0.100 None 0 2
CUI: C1848977
Disease: Short upper lip
Short upper lip 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 19 20 0.100 None 0 1
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 5 6 0.100 None 0 2
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 23 25 0.100 None 0 1
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 13 0.100 None 0 2
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 9 9 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: 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: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly 		disease Anatomical Abnormality 1 1 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: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 4 3 0.100 None 0 1
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 26 29 0.100 None 0 1
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
Hypointensity of cerebral white matter on MRI 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 1 0.100 None 0 1
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		phenotype Finding 2 2 0.100 None 0 1
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 1 1 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