DisGeNET - a database of gene-disease associations

Tremor of hands, C0239842

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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:	80208
Gene Symbol:	SPG11

SPG11

0.100

CausalMutation

phenotype

CLINVAR

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

2009

Entrez Id:	6607
Gene Symbol:	SMN2

SMN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9927
Gene Symbol:	MFN2

MFN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	151
Gene Symbol:	ADRA2B

ADRA2B

0.100

Biomarker

phenotype

HPO

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	540
Gene Symbol:	ATP7B

ATP7B

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2259
Gene Symbol:	FGF14

FGF14

0.100

Biomarker

phenotype

HPO

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1436
Gene Symbol:	CSF1R

CSF1R

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	25782
Gene Symbol:	RAB3GAP2

RAB3GAP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5165
Gene Symbol:	PDK3

PDK3

0.100

Biomarker

phenotype

HPO

Entrez Id:	10273
Gene Symbol:	STUB1

STUB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6900
Gene Symbol:	CNTN2

CNTN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	83636
Gene Symbol:	C19orf12

C19orf12

0.100

Biomarker

phenotype

HPO

Entrez Id:	1814
Gene Symbol:	DRD3

DRD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	401474
Gene Symbol:	SAMD12

SAMD12

0.100

Biomarker

phenotype

HPO

Entrez Id:	6606
Gene Symbol:	SMN1

SMN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

0.100

Biomarker

phenotype

HPO

Entrez Id:	57526
Gene Symbol:	PCDH19

PCDH19

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

0.100

Biomarker

phenotype

HPO

Entrez Id:	10528
Gene Symbol:	NOP56

NOP56

0.100

Biomarker

phenotype

HPO

Entrez Id:	11160
Gene Symbol:	ERLIN2

ERLIN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	7253
Gene Symbol:	TSHR

TSHR

0.100

Biomarker

phenotype

HPO

Entrez Id:	51663
Gene Symbol:	ZFR

ZFR

0.100

Biomarker

phenotype

HPO