Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
0.100 Biomarker phenotype HPO
Entrez Id: 10528
Gene Symbol: NOP56
NOP56
0.100 Biomarker phenotype HPO
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
0.100 Biomarker phenotype HPO
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
0.100 Biomarker phenotype HPO
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
0.100 Biomarker phenotype HPO
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
0.100 Biomarker phenotype HPO
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.100 Biomarker phenotype HPO
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
0.100 Biomarker phenotype HPO
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.100 Biomarker phenotype HPO
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.100 Biomarker phenotype HPO
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
0.100 Biomarker phenotype HPO
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
0.100 Biomarker phenotype HPO
Entrez Id: 23064
Gene Symbol: SETX
SETX
0.100 Biomarker phenotype HPO
Entrez Id: 23533
Gene Symbol: PIK3R5
PIK3R5
0.100 Biomarker phenotype HPO
Entrez Id: 3475
Gene Symbol: IFRD1
IFRD1
0.100 Biomarker phenotype HPO
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
0.100 Biomarker phenotype HPO
Entrez Id: 6342
Gene Symbol: SCP2
SCP2
0.100 Biomarker phenotype HPO
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
0.100 Biomarker phenotype HPO
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.010 Biomarker phenotype BEFREE In addition, we observed the ALFF abnormality in the cerebellum (left cerebellum VIII and right cerebellum VI) correlated with the tremor score in h-ET patients and abnormal ALFF in the left precentral gyrus correlated with the age at onset and disease duration in h-ET patients. 30002390 2018
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
0.010 GeneticVariation phenotype BEFREE These alterations correlated with the overall FTM scores as well as the subscores for limb tremor and head tremor in patients with ET. 28062908 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.010 GeneticVariation phenotype BEFREE Head tremor related to CACNA1A mutations. 21768184 2011