ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.900 GermlineCausalMutation disease ORPHANET
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 Biomarker disease HPO
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.510 Biomarker disease CTD_human
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.200 Biomarker group HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.150 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.130 Biomarker disease HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.130 Biomarker phenotype HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.130 Biomarker disease HPO
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.130 Biomarker phenotype HPO
CUI: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		0.120 Biomarker group HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.110 Biomarker group HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.110 Biomarker disease HPO
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.110 Biomarker phenotype HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 CausalMutation group CLINVAR
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.110 Biomarker phenotype HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 Biomarker phenotype HPO
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		0.110 Biomarker disease HPO
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.110 Biomarker group HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 CausalMutation phenotype CLINVAR
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.100 CausalMutation group CLINVAR