DisGeNET - a database of gene-disease associations

Dysdiadochokinesis, C0234979

Source: ALL

Results per page

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:	6548
Gene Symbol:	SLC9A1

SLC9A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10273
Gene Symbol:	STUB1

STUB1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2895
Gene Symbol:	GRID2

GRID2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2332
Gene Symbol:	FMR1

FMR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1600
Gene Symbol:	DAB1

DAB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7436
Gene Symbol:	VLDLR

VLDLR

0.100

Biomarker

phenotype

HPO

Entrez Id:	10382
Gene Symbol:	TUBB4A

TUBB4A

0.100

Biomarker

phenotype

HPO

Entrez Id:	79152
Gene Symbol:	FA2H

FA2H

0.100

Biomarker

phenotype

HPO

Entrez Id:	22
Gene Symbol:	ABCB7

ABCB7

0.100

Biomarker

phenotype

HPO

Entrez Id:	5456
Gene Symbol:	POU3F4

POU3F4

0.100

Biomarker

phenotype

HPO

Entrez Id:	7518
Gene Symbol:	XRCC4

XRCC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	440193
Gene Symbol:	CCDC88C

CCDC88C

0.100

Biomarker

phenotype

HPO

Entrez Id:	55532
Gene Symbol:	SLC30A10

SLC30A10

0.100

Biomarker

phenotype

HPO

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6314
Gene Symbol:	ATXN7

ATXN7

0.100

Biomarker

phenotype

HPO

Entrez Id:	5521
Gene Symbol:	PPP2R2B

PPP2R2B

0.100

Biomarker

phenotype

HPO

Entrez Id:	5981
Gene Symbol:	RFC1

RFC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6311
Gene Symbol:	ATXN2

ATXN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1161
Gene Symbol:	ERCC8

ERCC8

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	25814
Gene Symbol:	ATXN10

ATXN10

0.100

Biomarker

phenotype

HPO

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

0.100

Biomarker

phenotype

HPO

Entrez Id:	55154
Gene Symbol:	MSTO1

MSTO1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3746
Gene Symbol:	KCNC1

KCNC1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.010

GeneticVariation

phenotype

BEFREE

A 58-year-old man with indolent metastatic BRAF mutant melanoma presented with several days' history of progressive ataxia and dysdiadochokinesia.

2016