ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0264097
Disease: Calcaneal apophysitis
Calcaneal apophysitis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C3149907
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13 		phenotype Finding 1 0.200 None 1.000 1 2012 2012
CUI: C1619716
Disease: Cystatin C measurement
Cystatin C measurement 		phenotype Laboratory Procedure 2 8 0.100 None 1.000 1 1 2010 2010
CUI: C0024528
Disease: Malaise and fatigue
Malaise and fatigue 		phenotype Sign or Symptom 2 1 0.100 None 0 1
CUI: C0494479
Disease: Other headache syndrome
Other headache syndrome 		disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1367972
Disease: Phlebitis and thrombophlebitis
Phlebitis and thrombophlebitis 		disease Cardiovascular Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		disease Nervous System Diseases Disease or Syndrome 2 10 0.100 None 0 1
CUI: C4023053
Disease: Cerebellar Purkinje layer atrophy
Cerebellar Purkinje layer atrophy 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4024706
Disease: Spinal cord posterior columns myelin loss
Spinal cord posterior columns myelin loss 		phenotype Finding 2 0.100 None 0
CUI: C0449439
Disease: Carrier status
Carrier status 		phenotype Finding 3 6 0.100 None 1.000 1 1 2018 2018
CUI: C4518339
Disease: Sporadic adult-onset ataxia of unknown etiology
Sporadic adult-onset ataxia of unknown etiology 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Sign or Symptom 3 0.010 None 1.000 1 1998 1998
CUI: C4022403
Disease: Abnormality of the substantia nigra
Abnormality of the substantia nigra 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4025647
Disease: Abnormality of the spinocerebellar tracts
Abnormality of the spinocerebellar tracts 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1395088
Disease: Nervous system--Degeneration
Nervous system--Degeneration 		disease Disease or Syndrome 4 0.010 None 1.000 1 1999 1999
CUI: C0546817
Disease: Fluid overload
Fluid overload 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function 4 1 0.100 None 0 1
CUI: C1408507
Disease: Supranuclear ophthalmoplegia
Supranuclear ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		disease Disease or Syndrome 5 4 0.100 None 0 1
CUI: C0201910
Disease: Beta-2-microglobulin measurement
Beta-2-microglobulin measurement 		phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 1 2013 2013
CUI: C1332355
Disease: Autoimmune Hepatitis with Centrilobular Necrosis
Autoimmune Hepatitis with Centrilobular Necrosis 		disease Disease or Syndrome 6 3 0.100 None 1.000 1 1 2014 2014
CUI: C3711380
Disease: Huntington Disease-Like Syndrome
Huntington Disease-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C1866753
Disease: Impaired horizontal smooth pursuit
Impaired horizontal smooth pursuit 		phenotype Finding 7 0.100 None 0
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		disease Disease or Syndrome 8 23 0.010 None 1.000 1 2011 2011
CUI: C1963674
Disease: Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 10 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Finding 11 6 0.100 None 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		phenotype Anatomical Abnormality 12 1 0.100 None 0