DisGeNET - a database of gene-disease associations

Spinocerebellar Ataxia Type 1, C0752120

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

1.000

GermlineCausalMutation

disease

ORPHANET

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

1.000

CausalMutation

disease

CLINVAR

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

1.000

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	2911
Gene Symbol:	GRM1

GRM1

0.310

Biomarker

disease

CTD_human

Entrez Id:	10273
Gene Symbol:	STUB1

STUB1

0.300

Biomarker

disease

CTD_human

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

0.300

Biomarker

disease

CTD_human

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

0.300

Biomarker

disease

CTD_human

Entrez Id:	4311
Gene Symbol:	MME

MME

0.300

Biomarker

disease

CTD_human

Entrez Id:	55280
Gene Symbol:	CWF19L1

CWF19L1

0.300

Biomarker

disease

CTD_human

Entrez Id:	440193
Gene Symbol:	CCDC88C

CCDC88C

0.300

Biomarker

disease

CTD_human

Entrez Id:	60481
Gene Symbol:	ELOVL5

ELOVL5

0.300

Biomarker

disease

CTD_human

Entrez Id:	2895
Gene Symbol:	GRID2

GRID2

0.300

Biomarker

disease

CTD_human

Entrez Id:	10528
Gene Symbol:	NOP56

NOP56

0.300

Biomarker

disease

CTD_human

Entrez Id:	200403
Gene Symbol:	VWA3B

VWA3B

0.300

Biomarker

disease

CTD_human

Entrez Id:	51567
Gene Symbol:	TDP2

TDP2

0.300

Biomarker

disease

CTD_human

Entrez Id:	55129
Gene Symbol:	ANO10

ANO10

0.300

Biomarker

disease

CTD_human

Entrez Id:	9711
Gene Symbol:	RUBCN

RUBCN

0.300

Biomarker

disease

CTD_human

Entrez Id:	57231
Gene Symbol:	SNX14

SNX14

0.300

Biomarker

disease

CTD_human

Entrez Id:	8913
Gene Symbol:	CACNA1G

CACNA1G

0.300

Biomarker

disease

CTD_human

Entrez Id:	57410
Gene Symbol:	SCYL1

SCYL1

0.300

Biomarker

disease

CTD_human

Entrez Id:	6712
Gene Symbol:	SPTBN2

SPTBN2

0.300

Biomarker

disease

CTD_human

Entrez Id:	343641
Gene Symbol:	TGM6

TGM6

0.300

Biomarker

disease

CTD_human

Entrez Id:	7222
Gene Symbol:	TRPC3

TRPC3

0.300

Biomarker

disease

CTD_human

Entrez Id:	255928
Gene Symbol:	SYT14

SYT14

0.300

Biomarker

disease

CTD_human

Entrez Id:	2739
Gene Symbol:	GLO1

GLO1

0.020

Biomarker

disease

BEFREE

Recombination events in the two pedigrees and the estimated genetic distances of SCA1 from GLO1 and HLA favour the hypothesis of a SCA1 location distal to both of them.

1675045

1991