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: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 1.000 definitive 0.974 152 12 1994 2020
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 11 1.000 None 1.000 27 7 1994 2019
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.800 None 0.979 94 10 1999 2019
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 18 0.800 None 1.000 78 16 1994 2019
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 16 42 0.800 None 0.972 72 23 1995 2020
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 17 0.800 strong 0.941 17 15 1995 2018
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 9 0.800 None 1.000 15 9 1996 2018
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 8 0.780 None 1.000 16 8 1994 2018
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: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 10 0.710 None 1.000 6 10 1995 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.700 None 0.971 70 3 1997 2019
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
disease Neoplasms Disease or Syndrome 14 17 0.690 None 1.000 9 7 2006 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.660 None 1.000 6 8 2000 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.650 None 1.000 6 1 2013 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.600 None 0.981 104 2 2001 2019
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 10 0.600 None 1.000 66 9 1995 2019
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.540 None 1.000 5 1 1999 2019
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 140 72 0.510 None 1.000 1 2005 2005
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.500 None 0.979 94 7 2001 2019
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
disease Skin and Connective Tissue Diseases Neoplastic Process 44 21 0.500 None 1.000 17 9 2005 2018
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 208 93 0.500 None 1.000 1 1 2009 2009
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.500 None 0
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.460 None 1.000 6 6 2001 2019
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 0.420 None 1.000 3 1 1998 2001
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.410 None 1.000 2 1 2000 2002