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: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
phenotype Acquired Abnormality 4 1 0.010 1.000 1 2006 2006
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
phenotype Anatomical Abnormality 14 1 0.040 1.000 4 1 1996 1999
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis
phenotype Anatomical Abnormality 4 1 0.030 0.667 3 1 1998 2008
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 24 0.110 1.000 1 1998 1998
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
phenotype Anatomical Abnormality 11 1 0.010 1.000 1 2012 2012
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
phenotype Anatomical Abnormality 87 5 0.010 1.000 1 1 2017 2017
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 167 1 0.100 0
CUI: C0022906
Disease: Lacrimal Duct Obstruction
Lacrimal Duct Obstruction
phenotype Eye Diseases Anatomical Abnormality 11 0.100 0
CUI: C0024636
Disease: Malocclusion
Malocclusion
phenotype Stomatognathic Diseases Anatomical Abnormality 70 0.100 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
phenotype Anatomical Abnormality 39 0.100 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
phenotype Anatomical Abnormality 46 1 0.100 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
phenotype Anatomical Abnormality 50 0.100 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
phenotype Anatomical Abnormality 46 0.100 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C2051831
Disease: Pectus excavatum
Pectus excavatum
phenotype Anatomical Abnormality 140 5 0.100 0
CUI: C4020759
Disease: Pointed incisor
Pointed incisor
phenotype Anatomical Abnormality 10 0.100 0
Abnormality of pelvic girdle bone morphology
phenotype Anatomical Abnormality 52 0.100 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint
phenotype Anatomical Abnormality 1 0.100 0
CUI: C4021377
Disease: Prominent crus of helix
Prominent crus of helix
phenotype Anatomical Abnormality 3 0.100 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
phenotype Anatomical Abnormality 7 0.100 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix
phenotype Anatomical Abnormality 13 0.100 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal puncta
Hypoplasia of the lacrimal puncta
phenotype Anatomical Abnormality 3 0.100 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs
phenotype Anatomical Abnormality 3 0.100 0