Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		0.100 Biomarker disease HPO
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		0.100 Biomarker phenotype HPO
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		0.100 Biomarker disease HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		0.100 CausalMutation phenotype CLINVAR
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0542223
Disease: Loss of speech
Loss of speech 		0.100 Biomarker phenotype HPO
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.100 Biomarker disease HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 CausalMutation group CLINVAR
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 GeneticVariation disease CLINVAR
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.100 Biomarker phenotype HPO
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		0.100 Biomarker phenotype HPO
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		0.100 Biomarker phenotype HPO
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.100 Biomarker phenotype HPO
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		0.100 Biomarker phenotype HPO
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		0.100 Biomarker phenotype HPO
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C1853398
Disease: Spasticity of pharyngeal muscles
Spasticity of pharyngeal muscles 		0.100 Biomarker phenotype HPO