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 disease 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 disease CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
0.100 Biomarker disease HPO
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2
0.100 Biomarker disease HPO
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
0.100 Biomarker disease HPO
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
0.100 Biomarker disease HPO
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
0.100 Biomarker disease HPO
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 Biomarker disease HPO
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.100 Biomarker disease HPO
Entrez Id: 8270
Gene Symbol: LAGE3
LAGE3
0.100 Biomarker disease HPO
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
0.100 Biomarker disease HPO
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
0.100 Biomarker disease HPO
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
0.100 Biomarker disease HPO
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.100 Biomarker disease HPO
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.100 Biomarker disease HPO
Entrez Id: 6224
Gene Symbol: RPS20
RPS20
0.100 Biomarker disease HPO
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
0.100 Biomarker disease HPO
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
0.100 Biomarker disease HPO
Entrez Id: 343035
Gene Symbol: RD3
RD3
0.100 Biomarker disease HPO
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
0.100 Biomarker disease HPO
Entrez Id: 22909
Gene Symbol: FAN1
FAN1
0.100 Biomarker disease HPO
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.100 Biomarker disease HPO
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
0.100 Biomarker disease HPO
Entrez Id: 55746
Gene Symbol: NUP133
NUP133
0.100 Biomarker disease HPO