SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
|
29604224 |
2018 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
|
29604224 |
2018 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recessive mutations in VPS13D cause childhood onset movement disorders.
|
29518281 |
2018 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.
|
24406073 |
2014 |
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Talipes cavus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Peripheral axonal neuropathy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Distal amyotrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Left Bundle-Branch Block
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Compared to controls with scar, LBBB with scar had a lower LVEF (median [interquartile range] 27 [19-38] vs 36 [25-50] %, p < 0.001), smaller scar (4 [1-9] vs 11 [6-20] %LVM, p < 0.001), and greater dysfunction index (39 [30-52] vs 21 [12-35] % points, p < 0.001).
|
30497733 |
2019 |
Tuberculosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
In previous studies involving the following heteroleptic Ru complexes, [Ru(pic)(dppb)(bipy)]PF<sub>6</sub> (SCAR1), [Ru(pic)(dppb)(Me-bipy)]PF<sub>6</sub> (SCAR2), [Ru(pic)(dppb)(phen)]PF<sub>6</sub> (SCAR4), <i>cis</i>-[Ru(pic)(dppe)<sub>2</sub>]PF<sub>6</sub> (SCAR5), and [Ru(pic)(dppe)(phen)]PF<sub>6</sub> (SCAR7), we observed excellent anti-TB activity, moderate cell-toxicity, and a lack of oral bioavailability in an <i>in vivo</i> model of these complexes.
|
30574128 |
2018 |
Ataxia, Spinocerebellar
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This included a large family with 5 affected siblings with spinocerebellar ataxia with saccadic intrusions (SCASI), or spinocerebellar ataxia, recessive, type 4 (SCAR4).
|
29604224 |
2018 |
Weight Gain
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Different transcriptional control of metabolism and extracellular matrix in visceral and subcutaneous fat of obese and rimonabant treated mice.
|
19030233 |
2008 |
Ataxia
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Our study demonstrates that compound heterozygous mutations in VPS13D cause movement disorders along the ataxia-spasticity spectrum, making VPS13D the fourth VPS13 paralog involved in neurological disorders.Ann Neurol 2018.
|
29604224 |
2018 |
Ataxia
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Spasticity
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
|
29604224 |
2018 |
Muscle Spasticity
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscular fasciculation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Myoclonus
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|