Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.700 None 0.971 0 0 2006 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.200 None 1.000 0 0 2002 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.150 None 1.000 0 0 2010 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype 0.130 None 1.000 0 0 1994 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.130 None 1.000 0 0 2003 2015
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.130 None 1.000 0 0 1994 2017
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C4551520
Disease: Intention tremor
Intention tremor 		phenotype 0.130 None 1.000 0 0 1994 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		group 0.120 None 1.000 0 0 1998 1999
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.110 None 1.000 0 0 2000 2000
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.110 None 1.000 0 0 2006 2006
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease 0.110 None 1.000 0 0 1999 1999
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype 0.110 None 1.000 0 0 2003 2003
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.110 None 1.000 0 0 2011 2011
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1850496
Disease: Neuronal loss in central nervous system
Neuronal loss in central nervous system 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1846865
Disease: Substantia nigra gliosis
Substantia nigra gliosis 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype 0.100 None 0 0