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 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: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
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
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0.100 Biomarker phenotype HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 Biomarker disease HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO