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 _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555817157

ABHD12

0.700

CausalMutation

CLINVAR

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

29571850

2018

dbSNP:

rs864309483

ADCY5

0.700

CausalMutation

CLINVAR

dbSNP:

rs1114167423

APTX

0.700

CausalMutation

CLINVAR

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

28652255

2017

dbSNP:

rs1555745467

CACNA1A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1561515242

CAMK4

0.700

GeneticVariation

CLINVAR

dbSNP:

rs375817528

CAPN1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1561904557

CSF1R

TGCC

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553630279

CTNNB1

0.700

CausalMutation

CLINVAR

[Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

2614104

1989

dbSNP:

rs1553630279

CTNNB1

0.700

CausalMutation

CLINVAR

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

27915094

2017

dbSNP:

rs1553630279

CTNNB1

0.700

CausalMutation

CLINVAR

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

24668549

2014

dbSNP:

rs797045055

CYTB ; ND5 ; ND6

0.700

GeneticVariation

CLINVAR

Molecular diagnostic experience of whole-exome sequencing in adult patients.

26633545

2016

dbSNP:

rs142110773

DDC ; FIGNL1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057519389

EBF3

0.700

CausalMutation

CLINVAR

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

28017372

2017

dbSNP:

rs1057518813

ERCC5 ; BIVM-ERCC5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1043679457

ERCC8

0.700

CausalMutation

CLINVAR

dbSNP:

rs104894107

FXN

0.010

GeneticVariation

BEFREE

In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function.

9989622

1999

dbSNP:

rs142157346

FXN

0.010

GeneticVariation

BEFREE

9989622

1999

dbSNP:

rs1555507479

GNAO1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs63751243

GRN

0.010

GeneticVariation

BEFREE

We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism.

18442119

2008

dbSNP:

rs1345176461

IRF2BPL ; LOC107984638

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727502818

KCNC1

0.700

CausalMutation

CLINVAR

dbSNP:

rs374263073

LAMC2

0.010

GeneticVariation

BEFREE

A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.

19912322

2010

dbSNP:

rs770703007

MAPK8IP3

0.700

GeneticVariation

CLINVAR

dbSNP:

rs774277300

MRE11

0.700

CausalMutation

CLINVAR

dbSNP:

rs562740927

PANK2

0.010

GeneticVariation

BEFREE

Through scanning the exons and flanking intronic sequences of PANK2 in patient and control subjects, we report a compound heterozygote c. 260A > G (NM_001324191) and c.405dupC (NM_153638) for PANK2 mutations in a Chinese patient with clinical manifestation of progressive prosopospasm, dysarthria and gait disturbance.

29962256

2018