Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 60482
Gene Symbol: SLC5A7
SLC5A7
0.100 Biomarker phenotype HPO
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
0.100 Biomarker phenotype HPO
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
0.100 Biomarker phenotype HPO
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
0.100 Biomarker phenotype HPO
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 Biomarker phenotype HPO
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.100 Biomarker phenotype HPO
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
0.100 Biomarker phenotype HPO
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
0.100 Biomarker phenotype HPO
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.100 Biomarker phenotype HPO
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
0.100 Biomarker phenotype HPO
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.100 Biomarker phenotype HPO
Entrez Id: 6778
Gene Symbol: STAT6
STAT6
0.100 Biomarker phenotype HPO
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.100 Biomarker phenotype HPO
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.100 Biomarker phenotype HPO
Entrez Id: 10528
Gene Symbol: NOP56
NOP56
0.100 Biomarker phenotype HPO
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.100 Biomarker phenotype HPO
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.100 Biomarker phenotype HPO
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.100 Biomarker phenotype HPO
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 Biomarker phenotype HPO
Entrez Id: 2629
Gene Symbol: GBA
GBA
0.100 Biomarker phenotype HPO
Entrez Id: 23317
Gene Symbol: DNAJC13
DNAJC13
0.100 Biomarker phenotype HPO
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.100 Biomarker phenotype HPO
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
0.100 Biomarker phenotype HPO