DisGeNET - a database of gene-disease associations

Gait, Unsteady, C0231686

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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:	2033
Gene Symbol:	EP300

EP300

0.100

Biomarker

phenotype

HPO

Entrez Id:	2132
Gene Symbol:	EXT2

EXT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

0.100

Biomarker

phenotype

HPO

Entrez Id:	2561
Gene Symbol:	GABRB2

GABRB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2566
Gene Symbol:	GABRG2

GABRG2

0.100

Biomarker

phenotype

HPO

Entrez Id:	8139
Gene Symbol:	GAN

GAN

0.100

Biomarker

phenotype

HPO

Entrez Id:	2617
Gene Symbol:	GARS1

GARS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2705
Gene Symbol:	GJB1

GJB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	51218
Gene Symbol:	GLRX5

GLRX5

0.100

Biomarker

phenotype

HPO

Entrez Id:	2906
Gene Symbol:	GRIN2D

GRIN2D

0.100

Biomarker

phenotype

HPO

Entrez Id:	57531
Gene Symbol:	HACE1

HACE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	348980
Gene Symbol:	HCN1

HCN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	138050
Gene Symbol:	HGSNAT

HGSNAT

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	3064
Gene Symbol:	HTT

HTT

0.100

Biomarker

phenotype

HPO

Entrez Id:	339123
Gene Symbol:	JMJD8

JMJD8

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	3737
Gene Symbol:	KCNA2

KCNA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3745
Gene Symbol:	KCNB1

KCNB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	56479
Gene Symbol:	KCNQ5

KCNQ5

0.100

Biomarker

phenotype

HPO

Entrez Id:	10765
Gene Symbol:	KDM5B

KDM5B

0.100

Biomarker

phenotype

HPO

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	10749
Gene Symbol:	KIF1C

KIF1C

0.100

Biomarker

phenotype

HPO

Entrez Id:	3897
Gene Symbol:	L1CAM

L1CAM

0.300

Biomarker

phenotype

CTD_human

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

1994

Entrez Id:	23162
Gene Symbol:	MAPK8IP3

MAPK8IP3

0.100

Biomarker

phenotype

HPO