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: 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: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		disease Disease or Syndrome 1 0.030 None 1.000 3 2012 2016
CUI: C1516419
Disease: Cervical Mesonephric Adenocarcinoma
Cervical Mesonephric Adenocarcinoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C1516974
Disease: Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Estrogen Receptor Status - Clinical Trial Eligibility Criteria 		phenotype Clinical Attribute 1 2 0.100 None 1.000 1 2 2016 2016
CUI: C1517658
Disease: Cervical Keratinizing Squamous Cell Carcinoma
Cervical Keratinizing Squamous Cell Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2010 2010
CUI: C1867564
Disease: SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 		disease Finding 1 1 0.400 strong 1.000 1 1 2016 2016
CUI: C2126063
Disease: Exophthalmos, bilateral
Exophthalmos, bilateral 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2010 2010
CUI: C3267076
Disease: Familial scaphocephaly syndrome
Familial scaphocephaly syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 strong 1.000 1 2017 2017
CUI: C0685678
Disease: Incomplete ossification of pubis
Incomplete ossification of pubis 		phenotype Finding 1 0.100 None 0
CUI: C1852407
Disease: Prominent scrotal raphe
Prominent scrotal raphe 		phenotype Finding 1 0.100 None 0
CUI: C1852411
Disease: Preauricular skin furrow
Preauricular skin furrow 		phenotype Finding 1 0.100 None 0
CUI: C1863392
Disease: Abnormal morphology of the limbic system
Abnormal morphology of the limbic system 		phenotype Finding 1 0.100 None 0
CUI: C1863395
Disease: Acrobrachycephaly
Acrobrachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.100 None 0
CUI: C1863403
Disease: Broad distal hallux
Broad distal hallux 		phenotype Finding 1 0.100 None 0
CUI: C1867563
Disease: CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT 		disease Finding 1 1 0.100 None 0 1
CUI: C3552414
Disease: Deviation of the thumb
Deviation of the thumb 		phenotype Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C4016344
Disease: PFEIFFER SYNDROME VARIANT
PFEIFFER SYNDROME VARIANT 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
PFEIFFER SYNDROME, TYPE III 		disease Finding 1 1 0.100 None 0 1
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL 		disease Finding 1 1 0.100 None 0 1
CUI: C4023454
Disease: Metopic depression
Metopic depression 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly 		disease Anatomical Abnormality 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: C4073134
Disease: Abnormality of the periosteum
Abnormality of the periosteum 		disease Anatomical Abnormality 1 0.100 None 0
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 16 0.970 None 1.000 37 14 1994 2017
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 1.000 4 1997 2009