DisGeNET - a database of gene-disease associations

Chorea, C0008489

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Source: ALL

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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:	54209
Gene Symbol:	TREM2

TREM2

0.110

Biomarker

phenotype

HPO

Entrez Id:	3736
Gene Symbol:	KCNA1

KCNA1

0.110

Biomarker

phenotype

HPO

Entrez Id:	2395
Gene Symbol:	FXN

FXN

0.110

Biomarker

phenotype

HPO

Entrez Id:	8291
Gene Symbol:	DYSF

DYSF

0.110

Biomarker

phenotype

HPO

Entrez Id:	23732
Gene Symbol:	FRRS1L

FRRS1L

0.100

CausalMutation

phenotype

CLINVAR

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

2016

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

0.100

CausalMutation

phenotype

CLINVAR

De novo mutations in epileptic encephalopathies.

2013

Entrez Id:	54112
Gene Symbol:	GPR88

GPR88

0.100

Biomarker

phenotype

HPO

Entrez Id:	9997
Gene Symbol:	SCO2

SCO2

0.100

Biomarker

phenotype

HPO

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5660
Gene Symbol:	PSAP

PSAP

0.100

Biomarker

phenotype

HPO

Entrez Id:	2593
Gene Symbol:	GAMT

GAMT

0.100

Biomarker

phenotype

HPO

Entrez Id:	51816
Gene Symbol:	ADA2

ADA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	57338
Gene Symbol:	JPH3

JPH3

0.100

Biomarker

phenotype

HPO

Entrez Id:	4540
Gene Symbol:	ND5

ND5

0.100

Biomarker

phenotype

HPO

Entrez Id:	2760
Gene Symbol:	GM2A

GM2A

0.100

Biomarker

phenotype

HPO

Entrez Id:	5159
Gene Symbol:	PDGFRB

PDGFRB

0.100

Biomarker

phenotype

HPO

Entrez Id:	124512
Gene Symbol:	METTL23

METTL23

0.100

Biomarker

phenotype

HPO

Entrez Id:	57102
Gene Symbol:	C12orf4

C12orf4

0.100

Biomarker

phenotype

HPO

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

0.100

Biomarker

phenotype

HPO

Entrez Id:	79882
Gene Symbol:	ZC3H14

ZC3H14

0.100

Biomarker

phenotype

HPO

Entrez Id:	23043
Gene Symbol:	TNIK

TNIK

0.100

Biomarker

phenotype

HPO

Entrez Id:	2898
Gene Symbol:	GRIK2

GRIK2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1356
Gene Symbol:	CP

CP

0.100

Biomarker

phenotype

HPO

Entrez Id:	6301
Gene Symbol:	SARS1

SARS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79791
Gene Symbol:	FBXO31

FBXO31

0.100

Biomarker

phenotype

HPO