Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.500 CausalMutation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.400 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.400 CausalMutation CLINVAR

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.200 CausalMutation CLINVAR

Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.200 CausalMutation CLINVAR

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.200 CausalMutation CLINVAR

Entrez Id: 2911
Gene Symbol: GRM1
GRM1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.190 CausalMutation CLINVAR

Entrez Id: 767
Gene Symbol: CA8
CA8
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.170 GeneticVariation CLINVAR

Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.150 CausalMutation CLINVAR

Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.150 GeneticVariation CLINVAR

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.130 CausalMutation CLINVAR

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.120 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.120 CausalMutation CLINVAR

Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.120 CausalMutation CLINVAR

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.120 GeneticVariation CLINVAR

Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 CausalMutation CLINVAR

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 CausalMutation CLINVAR

Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 GeneticVariation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 CausalMutation CLINVAR

Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 CausalMutation CLINVAR

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.110 GeneticVariation CLINVAR

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.100 GeneticVariation CLINVAR

Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.100 GeneticVariation CLINVAR

Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.100 GeneticVariation CLINVAR

Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.100 CausalMutation CLINVAR