DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ataxia ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23064
Gene Symbol:	SETX

SETX

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.200

GeneticVariation

CLINVAR

Entrez Id:	4508
Gene Symbol:	ATP6

ATP6

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.170

CausalMutation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

Entrez Id:	6712
Gene Symbol:	SPTBN2

SPTBN2

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.170

GeneticVariation

CLINVAR

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.150

CausalMutation

CLINVAR

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

26626314

2016

Entrez Id:	56997
Gene Symbol:	COQ8A

COQ8A

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.150

GeneticVariation

CLINVAR

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.110

CausalMutation

CLINVAR

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

28017372

2017

Entrez Id:	55703
Gene Symbol:	POLR3B

POLR3B

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.110

CausalMutation

CLINVAR

Entrez Id:	2186
Gene Symbol:	BPTF

BPTF

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

CausalMutation

CLINVAR

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

28942966

2017

Entrez Id:	128989
Gene Symbol:	TANGO2

TANGO2

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

CausalMutation

CLINVAR

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

26805781

2016

Entrez Id:	51651
Gene Symbol:	PTRH2

PTRH2

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

GeneticVariation

CLINVAR

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

GeneticVariation

CLINVAR

Entrez Id:	23111
Gene Symbol:	SPART

SPART

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

GeneticVariation

CLINVAR

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

GeneticVariation

CLINVAR

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

GeneticVariation

CLINVAR