C9orf72, C9orf72-SMCR8 complex subunit, 203228

N. diseases: 258; N. variants: 16
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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.800 limited 0.985 520 15 2009 2020
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 13 4 0.800 None 1.000 16 1 2012 2020
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.500 limited 0.987 376 2 2011 2020
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.500 None 0.667 12 2012 2017
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.400 None 0.992 125 2012 2020
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 35 10 0.400 None 1.000 18 2012 2019
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.400 None 0.667 12 2012 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.400 None 0.500 10 2013 2019
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 13 0.320 None 1.000 3 2013 2017
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 126 61 0.320 None 1.000 2 2014 2016
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 4 0.310 None 1.000 2 2013 2017
CUI: C0393554
Disease: Amyotrophic Lateral Sclerosis With Dementia
Amyotrophic Lateral Sclerosis With Dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 0.310 None 1.000 2 2013 2017
CUI: C0543859
Disease: Amyotrophic Lateral Sclerosis, Guam Form
Amyotrophic Lateral Sclerosis, Guam Form 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.310 None 1.000 2 2013 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.310 None < 0.001 1 2013 2013
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.300 None 1.000 1 2009 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 138 0.300 None 1.000 1 2009 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.300 None 1.000 1 2009 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.200 None 0.941 34 2012 2020
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.200 None 0.957 23 3 2012 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.200 None 0.895 19 2013 2017
CUI: C0003089
Disease: Ankylosing spondylitis and other inflammatory spondylopathies
Ankylosing spondylitis and other inflammatory spondylopathies 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 1.000 1 2016 2016
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.150 None 1.000 7 2 2012 2018
CUI: C0018524
Disease: Hallucinations
Hallucinations 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.140 None 1.000 4 2012 2015