Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004096
Disease: Asthma
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
CUI: C0004134
Disease: Ataxia
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
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0087012
Disease: Ataxia, Spinocerebellar
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
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 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
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0.100 Biomarker phenotype HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0023211
Disease: Left Bundle-Branch Block
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
CUI: C0585556
Disease: Macrosaccadic oscillations
Macrosaccadic oscillations 		0.100 Biomarker phenotype HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.020 GeneticVariation group 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.020 GeneticVariation group BEFREE Recessive mutations in VPS13D cause childhood onset movement disorders. 29518281 2018
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 GeneticVariation phenotype BEFREE Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. 29604224 2018
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.100 Biomarker phenotype HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 GeneticVariation group BEFREE We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a novel complex, hyperkinetic neurological disorder. 29518281 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 Biomarker group 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