FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 665; N. variants: 90
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: C1405984
Disease: Absent radius
Absent radius
disease Congenital Abnormality 19 0.100 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 25 0.100 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
phenotype Anatomical Abnormality 46 0.100 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence
phenotype Finding 5 0.100 0
CUI: C1848103
Disease: Narrow pelvis bone
Narrow pelvis bone
phenotype Finding 8 0.100 0
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype Finding 136 0.100 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 102 3 0.100 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype Finding 32 0.100 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 95 2 0.100 0
CUI: C1849227
Disease: Cleft of chin
Cleft of chin
phenotype Finding 2 0.100 0
CUI: C1849314
Disease: absence of radius and ulna
absence of radius and ulna
phenotype Finding 18 0.100 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth
phenotype Finding 12 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0
CUI: C1850161
Disease: Widened metatarsal shaft
Widened metatarsal shaft
phenotype Finding 6 0.100 0
CUI: C1850189
Disease: Large pinnae
Large pinnae
phenotype Finding 133 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 89 1 0.100 0
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification
phenotype Finding 8 1 0.100 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 14 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1837532
Disease: Fused labia minora
Fused labia minora
phenotype Finding 5 0.100 0
CUI: C1837760
Disease: Prominent eyes
Prominent eyes
phenotype Finding 136 0.100 0
CUI: C1838608
Disease: Radial aplasia
Radial aplasia
disease Disease or Syndrome 19 0.100 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 13 1 0.100 0
CUI: C1839798
Disease: Long nose
Long nose
phenotype Finding 23 0.100 0