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: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 1 15 0.200 None 1.000 6 8 1998 2019
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: 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: C0001080
Disease: Achondroplasia
Achondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 9 1.000 definitive 0.974 1 9 1994 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 1 14 0.800 strong 0.941 1 14 1995 2018
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: 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: 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: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		disease Finding 1 1 0.100 None 0 1
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4225629
Disease: SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 		phenotype Finding 1 1 0.100 None 0 1
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: 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: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		disease Skin and Connective Tissue Diseases Neoplastic Process 2 5 0.500 None 1.000 0 2 2005 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 7 0.460 None 1.000 0 6 2001 2019
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 2 2 0.100 None 0 1
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 3 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
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.150 None 1.000 0 1 1998 2016
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype Finding 2 2 0.100 None 0 1
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