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: C0151846
Disease: Periosteal Disorder
Periosteal Disorder
disease Musculoskeletal Diseases Disease or Syndrome 80 0.010 None 1.000 1 2001 2001
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.010 None 1.000 1 2019 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2019 2019
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.010 None 1.000 1 2020 2020
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment
disease Disease or Syndrome 20 1 0.010 None 1.000 1 1 2012 2012
CUI: C0751560
Disease: Malignant neoplasm tonsil
Malignant neoplasm tonsil
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 22 0.010 None 1.000 1 2017 2017
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.010 None 1.000 1 2009 2009
CUI: C0948750
Disease: Salivary gland carcinoma
Salivary gland carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 47 5 0.010 None 1.000 1 2016 2016
Papillary transitional cell neoplasm of low malignant potential
disease Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
disease Neoplasms Neoplastic Process 165 36 0.010 None 1.000 1 2014 2014
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles
disease Skin and Connective Tissue Diseases Disease or Syndrome 74 1 0.010 None 1.000 1 2019 2019
Perianal Squamous Intraepithelial Neoplasia
disease Neoplastic Process 52 0.010 None 1.000 1 2009 2009
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2005 2005
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None 1.000 1 2017 2017
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 3 2010 2010
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans
disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2007 2007
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 97 10 0.010 None 1.000 1 2017 2017
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
disease Stomatognathic Diseases Disease or Syndrome 106 8 0.010 None 1.000 1 2015 2015
CUI: C1334282
Disease: Inverted urothelial papilloma
Inverted urothelial papilloma
disease Neoplastic Process 2 3 0.010 None 1.000 1 2009 2009
CUI: C0028880
Disease: Odontogenic Tumors
Odontogenic Tumors
group Neoplasms Neoplastic Process 62 2 0.010 None 1.000 1 2018 2018
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.010 None 1.000 1 2007 2007
CUI: C1335110
Disease: Oligodendroglial Neoplasm
Oligodendroglial Neoplasm
disease Neoplasms; Nervous System Diseases Neoplastic Process 14 2 0.010 None 1.000 1 2017 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2019 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 2014 2014
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma
disease Neoplasms; Immune System Diseases Neoplastic Process 142 8 0.010 None 1.000 1 1 2008 2008