DisGeNET - a database of gene-disease associations

Gait abnormality, C0575081

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:	215
Gene Symbol:	ABCD1

ABCD1

0.100

GeneticVariation

group

CLINVAR

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

9452087

1998

Entrez Id:	51
Gene Symbol:	ACOX1

ACOX1

0.100

Biomarker

group

HPO

Entrez Id:	111
Gene Symbol:	ADCY5

ADCY5

0.100

Biomarker

group

HPO

Entrez Id:	576
Gene Symbol:	ADGRB2

ADGRB2

0.100

GeneticVariation

group

CLINVAR

A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

28891236

2017

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

0.100

Biomarker

group

HPO

Entrez Id:	9131
Gene Symbol:	AIFM1

AIFM1

0.100

Biomarker

group

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

CausalMutation

group

CLINVAR

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

group

HPO

Entrez Id:	57679
Gene Symbol:	ALS2

ALS2

0.100

CausalMutation

group

CLINVAR

Entrez Id:	57679
Gene Symbol:	ALS2

ALS2

0.100

Biomarker

group

HPO

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

0.100

Biomarker

group

HPO

Entrez Id:	8905
Gene Symbol:	AP1S2

AP1S2

0.100

Biomarker

group

HPO

Entrez Id:	351
Gene Symbol:	APP

APP

0.100

Biomarker

group

HPO

Entrez Id:	54840
Gene Symbol:	APTX

APTX

0.100

Biomarker

group

HPO

Entrez Id:	367
Gene Symbol:	AR

0.100

Biomarker

group

HPO

Entrez Id:	200894
Gene Symbol:	ARL13B

ARL13B

0.100

Biomarker

group

HPO

Entrez Id:	403
Gene Symbol:	ARL3

ARL3

0.100

Biomarker

group

HPO

Entrez Id:	80210
Gene Symbol:	ARMC9

ARMC9

0.100

Biomarker

group

HPO

Entrez Id:	410
Gene Symbol:	ARSA

ARSA

0.100

Biomarker

group

HPO

Entrez Id:	170302
Gene Symbol:	ARX

ARX

0.100

Biomarker

group

HPO

Entrez Id:	427
Gene Symbol:	ASAH1

ASAH1

0.100

Biomarker

group

HPO

Entrez Id:	84896
Gene Symbol:	ATAD1

ATAD1

0.100

Biomarker

group

HPO

Entrez Id:	472
Gene Symbol:	ATM

ATM

0.100

Biomarker

group

HPO

Entrez Id:	23400
Gene Symbol:	ATP13A2

ATP13A2

0.100

Biomarker

group

HPO

Entrez Id:	10159
Gene Symbol:	ATP6AP2

ATP6AP2

0.100

Biomarker

group

HPO