FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
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.
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 8 0.780 None 1.000 16 8 1994 2018
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.070 None 1.000 7 3 1996 2017
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 10 0.710 None 1.000 6 10 1995 2016
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.030 None 1.000 3 1 2007 2018
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy
group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.010 None 1.000 1 2010 2010
CUI: C2930793
Disease: Achondroplastic dwarfism
Achondroplastic dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 1997 1997
CUI: C3272759
Disease: Brain Development Abnormality
Brain Development Abnormality
group Mental Disorders Disease or Syndrome 1 0.010 None < 0.001 1 2016 2016
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions
phenotype Finding 1 0.100 None 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy
phenotype Finding 1 0.100 None 0
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses
phenotype Finding 1 0.100 None 0
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature
disease Finding 1 1 0.100 None 0 1
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint
disease Anatomical Abnormality 1 0.100 None 0
Spinal stenosis with reduced interpedicular distance
phenotype Finding 1 0.100 None 0
Thimble-shaped middle phalanges of hand
disease Anatomical Abnormality 1 0.100 None 0
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
phenotype Finding 1 1 0.100 None 0 1
CUI: C0011645
Disease: Dermatosis Papulosa Nigra
Dermatosis Papulosa Nigra
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0302894
Disease: Stucco keratosis
Stucco keratosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C1334282
Disease: Inverted urothelial papilloma
Inverted urothelial papilloma
disease Neoplastic Process 2 3 0.010 None 1.000 1 2009 2009
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 2 0.010 None 1.000 1 1998 1998
Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7
disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C2014414
Disease: orthopedic disorders
orthopedic disorders
group Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0426874
Disease: Trident hand
Trident hand
phenotype Musculoskeletal Diseases Finding 2 2 0.100 None 0
CUI: C1860048
Disease: Temporal bossing
Temporal bossing
phenotype Finding 2 0.100 None 0