PABPN1, poly(A) binding protein nuclear 1, 8106

N. diseases: 48; N. variants: 3
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2009 2009
CUI: C0743319
Disease: Dysphagia, progressive
Dysphagia, progressive
disease Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.010 None 1.000 1 2016 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2016 2016
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
disease Stomatognathic Diseases Disease or Syndrome 106 8 0.010 None 1.000 1 2019 2019
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 134 58 0.010 None 1.000 1 2016 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2018 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.010 None 1.000 1 2016 2016
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172 0.010 None 1.000 1 2019 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.010 None 1.000 1 2017 2017
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.010 None 1.000 1 2019 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2015 2015
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 2007 2007
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2014 2014
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.010 None 1.000 1 2011 2011
CUI: C0023531
Disease: Leukoplakia
Leukoplakia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 102 8 0.010 None 1.000 1 2019 2019
CUI: C1834014
Disease: Oculopharyngodistal Myopathy
Oculopharyngodistal Myopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.020 None 1.000 2 2001 2004
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.020 None 1.000 2 2007 2011
CUI: C4024942
Disease: Late-onset muscular dystrophy
Late-onset muscular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.020 None 0.500 2 2009 2011
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2018 2018
CUI: C0030552
Disease: Paresis
Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.030 None 1.000 3 2013 2014
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.030 None 1.000 3 2013 2014
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease Musculoskeletal Diseases Disease or Syndrome 70 3 0.050 None 1.000 5 2006 2019