×
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 79882
Gene Symbol: ZC3H14
ZC3H14
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 23325
Gene Symbol: WASHC4
WASHC4
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 10352
Gene Symbol: WARS2
WARS2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 7991
Gene Symbol: TUSC3
TUSC3
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 79042
Gene Symbol: TSEN34
TSEN34
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 4577
Gene Symbol: TRNV
TRNV
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.110
Biomarker
phenotype
HPO
×
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.110
GeneticVariation
phenotype
BEFREE
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.
29578490 2018
×
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9
0.100
Biomarker
phenotype
HPO
TRAPPC11
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 23043
Gene Symbol: TNIK
TNIK
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 9524
Gene Symbol: TECR
TECR
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 6908
Gene Symbol: TBP
TBP
0.120
Biomarker
phenotype
HPO
×
Entrez Id: 6908
Gene Symbol: TBP
TBP
0.120
Biomarker
phenotype
BEFREE
The SCA17 clinical phenotype includes characteristics associated with cerebellar and cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features.
21710129 2011
×
Entrez Id: 6908
Gene Symbol: TBP
TBP
0.120
GeneticVariation
phenotype
BEFREE
We screened a cohort of 181 patients with features of primary progressive ataxia and chorea for spinocerebellar ataxias 17 (SCA17 ) mutation after excluding other known SCAs, Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), and non-genetic causes.
21108634 2011