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: 54840
Gene Symbol: APTX
APTX
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.200 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255

2017
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.200 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.200 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016
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: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.160 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
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: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 GeneticVariation CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
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