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: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 1997 1997
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2012 2012
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: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 18 1 0.010 None 1.000 1 2011 2011
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 21 0.010 None 1.000 1 1997 1997
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.010 None 1.000 1 2006 2006
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 126 72 0.010 None 1.000 1 2001 2001
CUI: C0021167
Disease: Incontinence
Incontinence 		disease Nervous System Diseases Disease or Syndrome 70 1 0.010 None 1.000 1 2003 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2003 2003
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2013 2013
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2012 2012
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.010 None 1.000 1 2015 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.010 None 1.000 1 2010 2010
CUI: C0234366
Disease: Ataxic
Ataxic 		phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2007 2007
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2012 2012
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2012 2012
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.010 None 1.000 1 2011 2011
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		disease Disease or Syndrome 27 2 0.010 None 1.000 1 1998 1998
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2003 2003
CUI: C0393571
Disease: Multiple System Atrophy
Multiple System Atrophy 		phenotype Nervous System Diseases Pathologic Function 19 6 0.010 None 1.000 1 2007 2007
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.010 None 1.000 1 2006 2006
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: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.010 None 1.000 1 2012 2012
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