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: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.010 1.000 1 1 2007 2007
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
group Neoplasms Neoplastic Process 309 4 0.010 1 2008 2008
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1119 228 0.010 1.000 1 2005 2005
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor
disease Neoplastic Process 224 7 0.010 1.000 1 2015 2015
CUI: C0023531
Disease: Leukoplakia
Leukoplakia
disease Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 60 7 0.010 1.000 1 2016 2016
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
group Disease or Syndrome 126 11 0.010 1.000 1 2008 2008
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
disease Neoplasms Neoplastic Process 60 2 0.010 1.000 1 2007 2007
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 107 7 0.010 1.000 1 2011 2011
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor
group Neoplasms Neoplastic Process 209 4 0.010 1.000 1 2015 2015
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 316 19 0.010 1.000 1 2007 2007
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 437 21 0.010 1.000 1 2010 2010
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 21 0.010 1.000 1 1997 1997
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 7 0.010 1.000 1 2014 2014
Monoclonal Gammopathy of Undetermined Significance
disease Hemic and Lymphatic Diseases; Immune System Diseases Neoplastic Process 149 2 0.010 1.000 1 2013 2013
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 211 3 0.010 1.000 1 1998 1998
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality 17 48 0.010 1.000 1 1996 1996
CUI: C1275859
Disease: Transitional cell dysplasia
Transitional cell dysplasia
disease Neoplastic Process 2 0.010 < 0.001 1 2011 2011
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 97 3 0.010 1.000 1 2014 2014
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Otorhinolaryngologic Diseases; Stomatognathic Diseases Neoplastic Process 781 60 0.010 1.000 1 2015 2015
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
disease Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 3 0.010 1.000 1 2016 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma
group Neoplasms Neoplastic Process 657 20 0.010 1.000 1 2014 2014
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome
disease Disease or Syndrome 17 0.010 1.000 1 2015 2015
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 17 0.010 1.000 1 2018 2018
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
phenotype Acquired Abnormality 4 1 0.010 1.000 1 2006 2006
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder
disease Congenital Abnormality 24 1 0.010 1.000 1 1997 1997