ATXN8, ataxin 8, 724066

N. diseases: 45; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.100 Biomarker disease HPO
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.100 Biomarker disease HPO
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		0.100 Biomarker phenotype HPO
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.100 Biomarker phenotype HPO
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		0.100 Biomarker phenotype HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 Biomarker phenotype HPO
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		0.100 Biomarker phenotype HPO
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades 		0.100 Biomarker phenotype HPO
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		0.100 Biomarker phenotype HPO
CUI: C1843921
Disease: Postural instability
Postural instability 		0.100 Biomarker phenotype HPO
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		0.100 Biomarker phenotype HPO
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration 		0.100 Biomarker phenotype HPO
CUI: C4021761
Disease: Morphological abnormality of the pyramidal tract
Morphological abnormality of the pyramidal tract 		0.100 Biomarker disease HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.100 Biomarker group HPO
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 AlteredExpression disease BEFREE Spinocerebellar ataxia type 8 (SCA8) involves the expression of an expanded CTG/CAG combined repeats (CR) from opposite strands producing CUG expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and a polyglutamine expansion protein (ataxin 8, ATXN8). 19203395 2009
CUI: C1837454
Disease: SPINOCEREBELLAR ATAXIA 8
SPINOCEREBELLAR ATAXIA 8 		0.670 AlteredExpression disease BEFREE Additional studies demonstrate that the SCA8 expansion is expressed in both directions (CUG and CAG) and that a novel gene expressed in the CAG direction encodes a pure polyglutamine expansion protein (ataxin 8, ATXN8). 18418692 2008