SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.100 Biomarker disease HPO
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.100 Biomarker disease HPO
CUI: C0278184
Disease: Scanning speech
Scanning speech 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		0.100 Biomarker phenotype HPO
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		0.100 Biomarker phenotype HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		0.100 Biomarker phenotype HPO
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.100 Biomarker phenotype HPO
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 Biomarker phenotype HPO
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		0.100 Biomarker phenotype HPO
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		0.100 Biomarker phenotype HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		0.100 Biomarker phenotype HPO
CUI: C1849143
Disease: Progressive truncal ataxia
Progressive truncal ataxia 		0.100 Biomarker phenotype HPO
CUI: C1849146
Disease: Loss of Purkinje cells in the cerebellar vermis
Loss of Purkinje cells in the cerebellar vermis 		0.100 Biomarker phenotype HPO
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		0.100 Biomarker phenotype HPO
CUI: C1849151
Disease: Hypermyelinated retinal nerve fibers
Hypermyelinated retinal nerve fibers 		0.100 Biomarker phenotype HPO
CUI: C1849152
Disease: Swan neck-like deformities of the fingers
Swan neck-like deformities of the fingers 		0.100 Biomarker phenotype HPO
CUI: C1853394
Disease: Gaze-evoked horizontal nystagmus
Gaze-evoked horizontal nystagmus 		0.100 Biomarker phenotype HPO