FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 60; N. variants: 39
Source: CLINVAR ×
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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 13 33 0.200 None 0.975 45 12 1995 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 34 1 1985 2016
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
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 6 8 1994 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 1 15 0.200 None 1.000 6 8 1998 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2 7 0.500 None 0.979 3 6 2001 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 5 7 0.100 None 1.000 3 1 2009 2013
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 12 0.800 None 1.000 3 12 1994 2019
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1 21 0.800 None 0.972 2 21 1995 2020
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 4 0.200 None 1.000 2 2 1996 2019
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 26 141 0.170 None 0.875 1 3 2009 2019
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 1 10 1995 2016
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 7 1.000 None 1.000 1 7 1994 2019
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 7 0.800 None 1.000 1 7 1996 2018
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease Neoplasms Neoplastic Process 27 179 0.150 None 1.000 1 2 2014 2019
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
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 3 32 0.720 None 1.000 1 9 1995 2017
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 11 30 0.100 None 1.000 1 2 2016 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 37 211 0.650 None 1.000 1 1 2013 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 15 76 0.700 None 0.971 1 2 1997 2019
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 22 135 0.160 None 1.000 1 2 2013 2019
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 4 5 0.100 None 0 1
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 30 35 0.100 None 0 1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 8 8 0.100 None 0 1
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 5 0.100 None 0 1
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		phenotype Finding 2 3 0.100 None 0 1