Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
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
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
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
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 		0.700 GeneticVariation disease UNIPROT Recessive mutations in VPS13D cause childhood onset movement disorders. 29518281 2018
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 		0.700 CausalMutation disease CLINVAR
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 		0.700 Biomarker disease CTD_human
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0043094
Disease: Weight Gain
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
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: 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: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		0.100 GeneticVariation phenotype GWASCAT VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock. 25896417 2015
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: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0585556
Disease: Macrosaccadic oscillations
Macrosaccadic oscillations 		0.100 Biomarker phenotype HPO