DisGeNET - a database of gene-disease associations

Dysarthria, C0013362

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:	144568
Gene Symbol:	A2ML1

A2ML1

0.100

Biomarker

disease

HPO

Entrez Id:	8086
Gene Symbol:	AAAS

AAAS

0.100

Biomarker

disease

HPO

Entrez Id:	57505
Gene Symbol:	AARS2

AARS2

0.100

Biomarker

disease

HPO

Entrez Id:	20
Gene Symbol:	ABCA2

ABCA2

0.010

GeneticVariation

disease

BEFREE

Our research links an ABCA2 variant with a distinct form of ataxia with dysarthria in humans and demonstrates pleiotropic effects due to the gene mutation.

31047799

2019

Entrez Id:	22
Gene Symbol:	ABCB7

ABCB7

0.100

Biomarker

disease

HPO

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

0.100

CausalMutation

disease

CLINVAR

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

29571850

2018

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

0.100

Biomarker

disease

HPO

Entrez Id:	51816
Gene Symbol:	ADA2

ADA2

0.100

Biomarker

disease

HPO

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

0.100

Biomarker

disease

HPO

Entrez Id:	111
Gene Symbol:	ADCY5

ADCY5

0.100

Biomarker

disease

HPO

Entrez Id:	111
Gene Symbol:	ADCY5

ADCY5

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	126
Gene Symbol:	ADH1C

ADH1C

0.100

Biomarker

disease

HPO

Entrez Id:	54936
Gene Symbol:	ADPRS

ADPRS

0.100

Biomarker

disease

HPO

Entrez Id:	10939
Gene Symbol:	AFG3L2

AFG3L2

0.100

Biomarker

disease

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

disease

HPO

Entrez Id:	224
Gene Symbol:	ALDH3A2

ALDH3A2

0.100

Biomarker

disease

HPO

Entrez Id:	57679
Gene Symbol:	ALS2

ALS2

0.100

Biomarker

disease

HPO

Entrez Id:	23600
Gene Symbol:	AMACR

AMACR

0.100

Biomarker

disease

HPO

Entrez Id:	55129
Gene Symbol:	ANO10

ANO10

0.100

Biomarker

disease

HPO

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

0.100

Biomarker

disease

HPO

Entrez Id:	10717
Gene Symbol:	AP4B1

AP4B1

0.100

Biomarker

disease

HPO

Entrez Id:	54840
Gene Symbol:	APTX

APTX

0.100

Biomarker

disease

HPO

Entrez Id:	54840
Gene Symbol:	APTX

APTX

0.100

CausalMutation

disease

CLINVAR

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

28652255

2017

Entrez Id:	367
Gene Symbol:	AR

0.100

Biomarker

disease

HPO

Entrez Id:	410
Gene Symbol:	ARSA

ARSA

0.100

Biomarker

disease

HPO