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: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		phenotype 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: C4025647
Disease: Abnormality of the spinocerebellar tracts
Abnormality of the spinocerebellar tracts 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra 		phenotype 0.100 None 0 0
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: C0085631
Disease: Agitation
Agitation 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
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: C0003467
Disease: Anxiety
Anxiety 		disease 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C4023053
Disease: Cerebellar Purkinje layer atrophy
Cerebellar Purkinje layer atrophy 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		phenotype 0.100 None 0 0
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: 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: 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: 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: 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: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0