FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 17; N. variants: 14
Source: UNIPROT ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.660 GeneticVariation disease UNIPROT
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.650 GeneticVariation disease UNIPROT
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.500 GeneticVariation disease UNIPROT
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369 1995
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia. 7670477 1995
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.800 GeneticVariation disease UNIPROT Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 7773297 1995
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD. 7773297 1995
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699 1995
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease UNIPROT Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935 1996
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.800 GeneticVariation disease UNIPROT The mechanism of FGFR3 activation in TDII was probed by constructing various point mutations in the activation loop. 8754806 1996
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT Here, we report the identification of FGFR3 mutations in 25/26 TD cases. 8845844 1996
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation disease UNIPROT A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 9042914 1997
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia. 10215410 1998
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.800 GeneticVariation disease UNIPROT Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. 9452043 1998
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient. 9790257 1998
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. 10671061 1998
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1.000 GeneticVariation disease UNIPROT Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359 1999
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 GeneticVariation disease UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491 1999
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease UNIPROT We examined 22 cases of TD variants for the presence of missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. 10360402 1999
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.800 GeneticVariation disease UNIPROT We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. 10053006 1999
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.540 GeneticVariation disease UNIPROT Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491 1999
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease UNIPROT The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. 10611230 2000