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: C1861226
Disease: Small abnormally formed scapulae
Small abnormally formed scapulae
phenotype Finding 2 0.100 None 0
Childhood onset short-limb short stature
phenotype Finding 2 0.100 None 0
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 11 1.000 None 1.000 27 7 1994 2019
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 9 0.800 None 1.000 15 9 1996 2018
CUI: C0235754
Disease: Bladder papilloma
Bladder papilloma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.020 None 1.000 2 2002 2009
Acrodermatitis continua of Hallopeau
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0522618
Disease: Focal dysplasia
Focal dysplasia
disease Congenital Abnormality 3 1 0.010 None 1.000 1 1 2014 2014
CUI: C1861217
Disease: Small foramen magnum
Small foramen magnum
phenotype Finding 3 1 0.100 None 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia
phenotype Finding 3 0.100 None 0
CUI: C3278024
Disease: Enlarged cerebellum
Enlarged cerebellum
phenotype Finding 3 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: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb
phenotype Finding 3 0.100 None 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia
phenotype Finding 3 0.100 None 0
Aplasia/hypoplasia of the extremities
disease Congenital Abnormality 4 1 0.110 None 1.000 1 2016 2016
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 4 0.100 None 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct
phenotype Finding 4 0.100 None 0
CUI: C1859460
Disease: Bowed humerus
Bowed humerus
phenotype Finding 4 1 0.100 None 0 1
CUI: C1866689
Disease: Short sacroiliac notch
Short sacroiliac notch
phenotype Finding 4 0.100 None 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct
phenotype Finding 4 0.100 None 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension
phenotype Finding 4 2 0.100 None 0
Nevus, Keratinocytic, Nonepidermolytic
disease Neoplasms Neoplastic Process 4 0.300 None 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe
disease Anatomical Abnormality 4 0.100 None 0