Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.700 CausalMutation disease CLINVAR
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		0.400 CausalMutation disease CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 20453470 2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477 1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 27139183 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686 1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 19088846 2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 28249712 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 10094188 1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668 2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. 19749790 2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Achondroplasia-hypochondroplasia complex in a newborn infant. 10360392 1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896 2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 20199409 2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 25606676 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. 24476948 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 8880573 1996
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 14613973 2004