FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
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: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype Finding 42 0.100 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 89 1 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 75 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 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: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
phenotype Finding 17 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: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 95 2 0.100 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype Finding 48 1 0.100 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
phenotype Anatomical Abnormality 50 0.100 0
CUI: C1840087
Disease: Radial ray hypoplasia
Radial ray hypoplasia
phenotype Finding 27 0.100 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 38 0.100 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype Finding 12 1 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing
phenotype Finding 25 0.100 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 57 0.100 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 66 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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype Finding 28 0.100 0
Abnormal form of the vertebral bodies
phenotype Finding 43 0.100 0