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: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplastic Process 1104 100 0.460 0.833 9 1 1996 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.420 strong 1.000 13 1987 2015
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 1 0.420 1.000 2 1 1998 2002
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: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 1 0.410 1.000 1 1 2002 2002
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		disease Neoplasms Neoplastic Process 398 6 0.400 1.000 21 2001 2018
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		disease Neoplastic Process 10 4 0.400 6 1 1995 2009
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Congenital Abnormality 41 3 0.400 strong 3 2001 2010
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 252 7 0.400 strong 1 1994 1994
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.350 1.000 5 2000 2016
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		disease Neoplastic Process 883 79 0.330 0.667 3 2000 2013
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 11 9 0.310 1.000 2 3 2006 2010
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.310 1.000 1 2015 2015
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		disease Neoplasms Neoplastic Process 42 4 0.300 1 1 2009 2009
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 1 2006 2006
CUI: C0343114
Disease: Woolly hair nevus
Woolly hair nevus 		disease Neoplastic Process 3 6 0.300 1 3 2006 2006
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 111 10 0.300 1 2008 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 168 241 0.300 1 2008 2008
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
Nongerminomatous Germ Cell Tumor 		disease Endocrine System Diseases; Male Urogenital Diseases; Neoplasms Neoplastic Process 17 4 0.300 1 1 2009 2009
CUI: C0238451
Disease: Teratoma of testis
Teratoma of testis 		disease Endocrine System Diseases; Male Urogenital Diseases; Neoplasms Neoplastic Process 4 3 0.300 1 1 2009 2009
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 128 7 0.300 1 2008 2008
CUI: C3463918
Disease: EMBRYONAL CELL CARCINOMA
EMBRYONAL CELL CARCINOMA 		disease Neoplastic Process 3 3 0.300 1 1 2009 2009
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 259 0.300 0
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		disease Neoplastic Process 15 0.300 0
CUI: C1834928
Disease: Cloverleaf skull micromelia thoracic dysplasia
Cloverleaf skull micromelia thoracic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 0