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: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 12 1.000 definitive 0.966 133 7 1994 2018
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.800 0.920 85 7 1996 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1311 784 0.700 0.958 85 4 1995 2018
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 12 0.800 0.968 73 12 1993 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.500 0.926 69 7 2001 2018
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality 13 30 0.800 0.927 66 18 1973 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.500 strong 0.944 65 8 1995 2017
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 2 0.600 0.963 60 2 1995 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality 276 31 0.200 0.923 39 8 1994 2018
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 5 1.000 1.000 30 1 1996 2015
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
disease Neoplasms Disease or Syndrome 11 12 0.680 1.000 28 3 1994 2011
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
disease Skin and Connective Tissue Diseases Neoplastic Process 27 12 0.500 1.000 26 8 1995 2016
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
disease Neoplasms Neoplastic Process 398 6 0.400 1.000 21 2001 2018
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 10 0.410 1.000 19 1 1996 2016
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 34 8 0.200 0.929 16 4 1997 2017
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 4 0.790 0.889 16 2 1993 2014
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
disease Neoplastic Process 256 4 0.100 1.000 16 2006 2018
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 2 0.700 1.000 14 2 1999 2018
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital Abnormality 65 51 0.200 1.000 13 4 1999 2018
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia
disease Congenital Abnormality 44 3 0.100 1.000 11 1997 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplastic Process 1104 100 0.460 0.833 9 1 1996 2013
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
disease Disease or Syndrome 1 1 0.100 9 1 1995 2008
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis
disease Disease or Syndrome 19 1 0.180 1.000 9 1 1997 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.070 1.000 7 2009 2018
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 3 0.070 1.000 7 1 1997 2012