TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
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: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		disease Disease or Syndrome 1 25 0.800 None 1.000 30 25 2008 2018
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		disease Disease or Syndrome 1 1 0.300 None 1.000 11 1 2008 2018
CUI: C3148872
Disease: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED 		disease Disease or Syndrome 1 3 0.300 None 1.000 1 3 2018 2018
CUI: C3150171
Disease: FTLD-TDP, TARDBP-RELATED
FTLD-TDP, TARDBP-RELATED 		disease Disease or Syndrome 1 0.200 None 1.000 1 2018 2018
CUI: C4302404
Disease: Non-amnestic Alzheimer disease
Non-amnestic Alzheimer disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C3502417
Disease: Amyotrophic Lateral Sclerosis 10
Amyotrophic Lateral Sclerosis 10 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0406778
Disease: Dermatopathia pigmentosa reticularis
Dermatopathia pigmentosa reticularis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 2015 2015
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.010 None 1.000 1 2013 2013
CUI: C1853723
Disease: MYOPATHY, DISTAL 2
MYOPATHY, DISTAL 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C0268279
Disease: Lipofuscinosis
Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2010 2010
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 4 1 0.200 None 1.000 1 2018 2018
CUI: C0796274
Disease: Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 29 0.010 None 1.000 1 2012 2012
CUI: C4274665
Disease: Logopenic progressive aphasia
Logopenic progressive aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2013 2013
CUI: C4551777
Disease: Brown-Vialetto-Van Laere syndrome
Brown-Vialetto-Van Laere syndrome 		disease Nervous System Diseases Disease or Syndrome 4 5 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 0.300 None 1.000 33 2007 2018
CUI: C1849485
Disease: Neuronal loss in the cerebral cortex
Neuronal loss in the cerebral cortex 		phenotype Finding 8 0.100 None 0
CUI: C0270763
Disease: Familial Motor Neuron Disease
Familial Motor Neuron Disease 		disease Nervous System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 1 2008 2008
CUI: C2931784
Disease: Amyloid angiopathy
Amyloid angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2019 2019
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		disease Disease or Syndrome 10 1 0.010 None 1.000 1 2009 2009
CUI: C4082769
Disease: Chronic Traumatic Encephalopathy
Chronic Traumatic Encephalopathy 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 12 0.030 None 1.000 3 2017 2017
CUI: C0205858
Disease: General Paralysis
General Paralysis 		disease Infections; Nervous System Diseases Disease or Syndrome 12 3 0.020 None 1.000 2 1 2012 2013
CUI: C0521175
Disease: Neuropil Threads
Neuropil Threads 		disease Acquired Abnormality 13 0.020 None 1.000 2 2009 2018
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 13 2 0.020 None 1.000 2 2015 2017
CUI: C1861736
Disease: SPINOCEREBELLAR ATAXIA 31 (disorder)
SPINOCEREBELLAR ATAXIA 31 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 0.020 None 1.000 2 2017 2019