Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.400 Biomarker disease CTD_human An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C. 21273508 2011
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
0.400 Biomarker disease CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.400 Biomarker disease HPO
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
0.400 Biomarker disease HPO
Entrez Id: 1356
Gene Symbol: CP
CP
0.130 AlteredExpression disease BEFREE Three factors (F1-F3) characterized the clinical outcome (F1: tremor and pathological reflexes; F2: dystonia and dysarthria; F3: cerebellar abnormalities and gait), and three factors the laboratory findings (LF1: serum level of ceruloplasmin; LF2: liver enzymes; LF3: INR). 29331561 2018
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.130 GeneticVariation disease 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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.130 GeneticVariation disease LHGDN Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. 18580586 2008
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.130 GeneticVariation disease LHGDN Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation. 16401857 2006
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.130 Biomarker disease BEFREE We describe an atypical case of pantothenate kinase-associated neurodegeneration (PKAN) in which slowly progressive arm tremor was the predominant symptom beginning at the age of 25, with late-onset dystonia and dysarthria developing at the age of 50. 16450344 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.130 GeneticVariation disease BEFREE A four-generation pedigree exhibiting early-onset autosomal dominant Alzheimer disease (AD) with spastic paraplegia, dystonia, and dysarthria due to a novel 6-nucleotide insertional mutation in exon 3 of the presenilin 1 gene (PS1) is described. 15159497 2004
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.130 GeneticVariation disease LHGDN Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. 14743358 2004
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.130 GeneticVariation disease BEFREE The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. 14743358 2004
Entrez Id: 1356
Gene Symbol: CP
CP
0.130 Biomarker disease BEFREE Three sporadic patients (two men and one woman) were examined with involuntary movements and dysarthria associated with abnormal concentrations of serum copper, serum ceruloplasmin, and urinary copper excretion. 11723201 2001
Entrez Id: 1356
Gene Symbol: CP
CP
0.130 GeneticVariation disease BEFREE We report here on the characterization of a mutation in the ceruloplasmin gene in a 45 year old woman with insulin-dependent diabetes mellitus who presented with the recent onset of gait disturbance and dysarthria. 8789443 1996
Entrez Id: 1356
Gene Symbol: CP
CP
0.130 Biomarker disease HPO
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.130 Biomarker disease HPO
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.130 Biomarker disease HPO
Entrez Id: 9213
Gene Symbol: XPR1
XPR1
0.110 GeneticVariation disease BEFREE We identified a novel c.260T > C, p.(Leu87Pro) XPR1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction. 27230854 2016
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
0.110 GeneticVariation disease BEFREE Distinctive features of dysarthria and dyspraxia are found in individuals with GRIN2A mutations, often in the setting of epilepsy-aphasia syndromes; dysarthria has not been previously recognized in these disorders. 25596506 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.110 GeneticVariation disease BEFREE Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE) and Alpers syndrome. 25660390 2015
Entrez Id: 6611
Gene Symbol: SMS
SMS
0.110 GeneticVariation disease BEFREE Snyder-Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech. 23897707 2013
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
0.110 GeneticVariation disease BEFREE The mutation in UBQLN2 was first identified in a 35-year-old female who presented with one year of progressive dysarthria, dyspnea, dysphagia, and cognitive decline. 23944734 2013
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
0.110 GeneticVariation disease BEFREE Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. 23918746 2013
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.110 GeneticVariation disease BEFREE All affected members present with cognitive impairment and two of them with mild intermittent involuntary movements in association with the clinical hallmarks of SCA15 (gait ataxia, balance impairment, and dysarthria). 21382133 2011
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
0.110 GeneticVariation disease LHGDN A V139M mutation also causes the reversible CNS phenotype in CMTX. 18714809 2008