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: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 33 0.720 None 1.000 5 9 1995 2017
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		disease Anatomical Abnormality 5 1 0.030 None 0.667 3 1 1998 2008
CUI: C0266184
Disease: Congenital duodenal obstruction due to malrotation of intestine
Congenital duodenal obstruction due to malrotation of intestine 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 5 1 0.010 None 1.000 1 2017 2017
CUI: C0600079
Disease: Ureter Carcinoma
Ureter Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 0.010 None 1.000 1 2016 2016
CUI: C0846967
Disease: Acanthoma
Acanthoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C1275859
Disease: Transitional cell dysplasia
Transitional cell dysplasia 		disease Neoplastic Process 5 0.010 None 1.000 1 2011 2011
CUI: C1283397
Disease: Deficiency of acetylcholinesterase
Deficiency of acetylcholinesterase 		disease Disease or Syndrome 5 0.010 None 1.000 1 1997 1997
CUI: C3179502
Disease: Linear Verrucous Epidermal Nevus
Linear Verrucous Epidermal Nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly 		phenotype Finding 5 0.100 None 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 0.100 None 0
CUI: C0004998
Disease: Benign neoplasm of skin
Benign neoplasm of skin 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.030 None 1.000 3 2005 2006
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 6 1 0.020 None 1.000 2 1 2007 2014
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		disease Neoplasms Neoplastic Process 6 0.300 strong 1.000 1 2006 2006
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 3 0.100 None 0 1
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		phenotype Finding 6 0.100 None 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		disease Eye Diseases Disease or Syndrome 6 0.100 None 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		disease Congenital Abnormality 6 1 0.100 None 0 1
CUI: C0278827
Disease: Bladder cancer recurrent
Bladder cancer recurrent 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 7 0.020 None 1.000 2 2001 2013
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 7 9 0.010 None 1.000 1 2010 2010
CUI: C0334265
Disease: Transitional Cell Neoplasm
Transitional Cell Neoplasm 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2015 2015
CUI: C1266010
Disease: Papillary transitional cell neoplasm of low malignant potential
Papillary transitional cell neoplasm of low malignant potential 		disease Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C1857624
Disease: COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING
COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C0270680
Disease: Posterior fossa compression syndrome
Posterior fossa compression syndrome 		disease Disease or Syndrome 7 0.100 None 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		phenotype Finding 7 0.100 None 0