Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 1500
Gene Symbol: CTNND1
CTNND1 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		0.010 Biomarker disease BEFREE Post hoc analysis indicated that patients with dysarthria and a shorter duration of DBS may be improved by short PW stimulation. 31571270 2020
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A 		0.010 Biomarker disease BEFREE Dysarthria and right-sided limb ataxia were newly developed before DWI (after p-CTA). 30593199 2018
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019
Entrez Id: 4351
Gene Symbol: MPI
MPI 		0.010 AlteredExpression disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		0.010 Biomarker disease BEFREE Here we report on an 11-year-old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays. 24810580 2014
Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181 		0.010 Biomarker disease BEFREE He had received intravenous tPA in the emergency room but ataxia and dysarthria symptoms persisted. 31197333 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.010 GeneticVariation disease BEFREE Pathogenic DNM1L mutations cause a mitochondrial disorder with a highly variable clinical phenotype characterized by developmental delay, hypotonia, seizures, microcephaly, poor feeding, ocular abnormalities, and dysarthria. 31587467 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 339123
Gene Symbol: JMJD8
JMJD8 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1644
Gene Symbol: DDC
DDC 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 CausalMutation disease CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 814
Gene Symbol: CAMK4
CAMK4 		0.100 GeneticVariation disease CLINVAR
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: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 CausalMutation disease CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104 1989
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.100 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		0.100 CausalMutation disease CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781 2016
Entrez Id: 7507
Gene Symbol: XPA
XPA 		0.100 CausalMutation disease CLINVAR