Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 CausalMutation disease CLINVAR Steroids in multiple sclerosis. 7989400 1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 CausalMutation disease CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 Biomarker disease CTD_human
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 GeneticVariation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 GeneticVariation disease BEFREE We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. 9385368 1997
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 CausalMutation disease CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 CausalMutation disease CLINVAR Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis. 10874645 1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 CausalMutation disease CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 CausalMutation disease CLINVAR A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. 15316116 2004
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 CausalMutation disease CLINVAR Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. 17693524 2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 GeneticVariation disease BEFREE We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. 7874170 1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.760 GeneticVariation disease BEFREE Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant). 27683237 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.710 GeneticVariation disease BEFREE In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). 27683237 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.710 GeneticVariation disease CLINVAR
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.710 CausalMutation disease CLINVAR
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.710 Biomarker disease GENOMICS_ENGLAND FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. 25759380 2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.710 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.710 Biomarker disease CTD_human
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.710 GeneticVariation disease UNIPROT Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678 2000
Entrez Id: 10101
Gene Symbol: NUBP2
NUBP2 		0.010 GeneticVariation disease BEFREE The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186. 7806229 1994