Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.130 GeneticVariation phenotype BEFREE The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. 12081723 2002
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.130 GeneticVariation phenotype BEFREE Episodic ataxia type 2 is a prototypical episodic vertigo and ataxia syndrome that is caused by mutations in the calcium channel gene CACNA1A. 11796946 2002
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.130 GeneticVariation phenotype BEFREE Mutations in CACNA1A are not common in families with migraine headaches and episodic vertigo. 9741473 1998
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.130 Biomarker phenotype HPO
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.130 GeneticVariation phenotype CLINVAR
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.120 GeneticVariation phenotype BEFREE Distinct vestibular phenotypes depending on the location of COCH mutations were demonstrated, and this study correlates a genotype of p.G38D in COCH to the phenotype of bilateral total vestibular loss, therefore expanding the vestibular phenotypic spectrum of DFNA9 to range from bilateral vestibular loss without episodic vertigo to MD-like features with devastating episodic vertigo. 26758463 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.120 GeneticVariation phenotype BEFREE Clinical characteristics of patients with SLC26A4 mutations were congenital, fluctuating and progressive hearing loss usually associated with vertigo and/or goiter. 24599119 2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.120 GeneticVariation phenotype BEFREE The present study confirmed the clinical characteristics of patients with SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually associated with vertigo and/or goiter during long-term follow-up. 17851929 2007
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.120 GeneticVariation phenotype BEFREE Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family. 14501450 2003
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.120 Biomarker phenotype HPO
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.120 Biomarker phenotype HPO
Entrez Id: 161497
Gene Symbol: STRC
STRC 		0.110 GeneticVariation phenotype BEFREE Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype. 30250054 2018
Entrez Id: 161497
Gene Symbol: STRC
STRC 		0.110 CausalMutation phenotype CLINVAR
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation phenotype CLINVAR SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 81608
Gene Symbol: FIP1L1
FIP1L1 		0.100 Biomarker phenotype HPO
Entrez Id: 7704
Gene Symbol: ZBTB16
ZBTB16 		0.100 Biomarker phenotype HPO
Entrez Id: 4771
Gene Symbol: NF2
NF2 		0.100 Biomarker phenotype HPO
Entrez Id: 3728
Gene Symbol: JUP
JUP 		0.100 Biomarker phenotype HPO
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.100 Biomarker phenotype HPO
Entrez Id: 567
Gene Symbol: B2M
B2M 		0.100 Biomarker phenotype HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		0.100 Biomarker phenotype HPO
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G 		0.100 Biomarker phenotype HPO