Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81790
Gene Symbol: RNF170
RNF170
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 64374
Gene Symbol: SIL1
SIL1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.310 Biomarker GENOMICS_ENGLAND SPG7 mutations are a common cause of undiagnosed ataxia. 25681447

2015

Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 6908
Gene Symbol: TBP
TBP
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 2911
Gene Symbol: GRM1
GRM1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5173
Gene Symbol: PDYN
PDYN
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. 27657680

2018

Entrez Id: 10466
Gene Symbol: COG5
COG5
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. 28960046

2018

Entrez Id: 8733
Gene Symbol: GPAA1
GPAA1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. 29100095

2017

Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. 28002403

2017

Entrez Id: 1600
Gene Symbol: DAB1
DAB1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. 28686858

2017

Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 28575651

2017

Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? 27928778

2017

Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Genetic studies in intellectual disability and related disorders. 26503795

2016

Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. 27426421

2016

Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND MMACHC gene mutation in familial hypogonadism with neurological symptoms. 26283149

2016

Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015

Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. 25657044

2015