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: 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 The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. 17935505 2007
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: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.720 GeneticVariation disease UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.710 GeneticVariation disease UNIPROT A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969 2006
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		0.690 GeneticVariation disease UNIPROT The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094 2006
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: 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: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.500 GeneticVariation disease UNIPROT Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. 19855393 2009
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.500 GeneticVariation disease UNIPROT We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations. 15772091 2005
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.500 GeneticVariation disease UNIPROT