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.
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
disease Acquired Abnormality 120 1 0.010 None 1.000 1 2006 2006
CUI: C0376154
Disease: Skin callus
Skin callus
disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2017 2017
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 17 1 0.040 None 1.000 4 1996 1999
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis
disease Anatomical Abnormality 5 1 0.030 None 0.667 3 1 1998 2008
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.020 None 1.000 2 1996 2005
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.110 None 1.000 1 2017 2017
CUI: C0410719
Disease: Deformity of bone
Deformity of bone
group Musculoskeletal Diseases Anatomical Abnormality 17 2 0.010 None 1.000 1 2001 2001
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
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
disease Anatomical Abnormality 12 4 0.010 None 1.000 1 2012 2012
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 1 2017 2017
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 19 1 0.110 None 1.000 1 2016 2016
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus
disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.100 None 0
CUI: C0024636
Disease: Malocclusion
Malocclusion
disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 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: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis
disease Musculoskeletal Diseases Anatomical Abnormality 35 0.100 None 0
Abnormality of pelvic girdle bone morphology
disease Anatomical Abnormality 55 5 0.100 None 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix
disease Anatomical Abnormality 3 1 0.100 None 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
disease Anatomical Abnormality 17 0.100 None 0
CUI: C4021398
Disease: Metacarpal synostosis
Metacarpal synostosis
disease Anatomical Abnormality 11 0.100 None 0