Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 CausalMutation CLINVAR The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. 17509076

2007

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.800 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
0.800 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.800 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 CausalMutation CLINVAR Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Malignant neoplasm of urinary bladder
0.800 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014

2011

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. 20199409

2010

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668

2008

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. 9857065

1998

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034

1995

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Lacrimoauriculodentodigital syndrome
0.720 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.710 GeneticVariation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.690 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.660 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.650 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.500 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014