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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease Congenital Abnormality 85 16 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2012 2012
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
group Anatomical Abnormality 29 1 0.100 None 0 1
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
Abnormal morphology of the limbic system
phenotype Finding 1 0.100 None 0
Abnormal nasolacrimal system morphology
disease Anatomical Abnormality 23 0.100 None 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
disease Finding 40 2 0.100 None 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
disease Congenital Abnormality 35 3 0.100 None 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
disease Anatomical Abnormality 17 0.100 None 0
Abnormal shape of the frontal region
phenotype Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology
disease Anatomical Abnormality 4 0.100 None 0
Abnormality of pelvic girdle bone morphology
disease Anatomical Abnormality 55 5 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
disease Anatomical Abnormality 17 0.100 None 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine
phenotype Finding 12 4 0.100 None 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx
disease Anatomical Abnormality 10 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: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C4073134
Disease: Abnormality of the periosteum
Abnormality of the periosteum
disease Anatomical Abnormality 1 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0 1
Abnormality of the posterior cranial fossa
phenotype Finding 4 1 0.100 None 0 1
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 4 11 0.030 None 1.000 3 2 1999 2017
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2011 2011