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.
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 2 0.700 1.000 14 2 1999 2018
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
disease Disease or Syndrome 1 1 0.100 9 1 1995 2008
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.770 1.000 7 1 1996 2017
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1
disease Disease or Syndrome 1 0.020 1.000 2 2009 2012
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 2 0.700 2 2 2006 2015
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature
phenotype Finding 1 1 0.100 1 1 2015 2015
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.010 1.000 1 1 2007 2007
CUI: C1535953
Disease: Stenosis of foramen magnum
Stenosis of foramen magnum
disease Disease or Syndrome 1 0.100 0
Cloverleaf skull micromelia thoracic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 0
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions
phenotype Finding 1 0.100 0
CUI: C1861217
Disease: Small foramen magnum
Small foramen magnum
phenotype Finding 1 0.100 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy
phenotype Finding 1 0.100 0
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses
phenotype Finding 1 0.100 0
CUI: C2931282
Disease: Skeletal dysplasia, San Diego type
Skeletal dysplasia, San Diego type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint
phenotype Anatomical Abnormality 1 0.100 0
Spinal stenosis with reduced interpedicular distance
phenotype Finding 1 0.100 0
Thimble-shaped middle phalanges of hand
phenotype Anatomical Abnormality 1 0.100 0
CUI: C4072838
Disease: Hypoplasia of foramen magnum
Hypoplasia of foramen magnum
phenotype Finding 1 0.100 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 5 1.000 1.000 30 1 1996 2015
CUI: C0235754
Disease: Bladder papilloma
Bladder papilloma
disease Neoplastic Process 2 0.020 1.000 2 2003 2009
CUI: C0011645
Disease: Dermatosis Papulosa Nigra
Dermatosis Papulosa Nigra
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 1.000 1 2010 2010
CUI: C0302894
Disease: Stucco keratosis
Stucco keratosis
disease Disease or Syndrome 2 0.010 1.000 1 2010 2010
CUI: C1275859
Disease: Transitional cell dysplasia
Transitional cell dysplasia
disease Neoplastic Process 2 0.010 < 0.001 1 2011 2011
CUI: C1334282
Disease: Inverted urothelial papilloma
Inverted urothelial papilloma
disease Neoplastic Process 2 0.010 1.000 1 2009 2009
CUI: C1859460
Disease: Bowed humerus
Bowed humerus
phenotype Finding 2 1 0.100 1 1 2015 2015