Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 GeneticVariation disease BEFREE We conclude that the novel variation in FGF14 is causative for SCA27 in this patient. 30017992 2019
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 Biomarker disease BEFREE Fibroblast growth factor 14 (FGF14) is a functionally relevant component of the Nav1.6 channel complex, a causative link to spinocerebellar ataxia 27 (SCA27) and an emerging risk factor for neuropsychiatric disorders. 31729429 2019
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 Biomarker disease CTD_human These results provide evidence of a critical role of FGF14 in maintaining presynaptic function at PF-Purkinje neuron synapses highlighting critical target mechanisms to recapitulate the complexity of the SCA27 disease. 26089778 2015
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 GeneticVariation disease BEFREE Mutations in FGF14 are known to cause spinocerebellar ataxia type 27 (SCA27). 25566820 2015
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 GeneticVariation disease BEFREE A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. 24252256 2014
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 GeneticVariation disease BEFREE Recently, mutations in the fibroblast growth factor 14 gene (FGF14) have been reported to cause SCA27 subtype. 22579694 2012
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 Biomarker disease MGD SCA27 is caused by an autosomal dominant missense mutation in Fibroblast Growth Factor 14 (FGF14). 17236779 2007
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 Biomarker disease GENOMICS_ENGLAND Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. 16211615 2006
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 Biomarker disease GENOMICS_ENGLAND Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. 15470364 2005
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 GeneticVariation disease UNIPROT A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. 12489043 2003
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 Biomarker disease MGD Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. 12123606 2002
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 CausalMutation disease CLINVAR
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 GermlineCausalMutation disease ORPHANET
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.950 Biomarker disease GENOMICS_ENGLAND