SERPINI1, serpin family I member 1, 5274

N. diseases: 49; N. variants: 4
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.
Familial encephalopathy with neuroserpin inclusion bodies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 4 0.930 1.000 9 4 2002 2015
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
disease Nervous System Diseases Disease or Syndrome 87 5 0.320 1.000 3 2007 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.310 1.000 1 2004 2004
Familial Progressive Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 17 0.300 1 2015 2015
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease
disease Nervous System Diseases Disease or Syndrome 17 0.300 1 2015 2015
Action Myoclonus-Renal Failure Syndrome
disease Nervous System Diseases Disease or Syndrome 19 19 0.300 1 2015 2015
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome
disease Nervous System Diseases Disease or Syndrome 17 0.300 1 2015 2015
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 65 1 0.300 1 2015 2015
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy
disease Nervous System Diseases Disease or Syndrome 17 0.300 1 2015 2015
CUI: C0497327
Disease: Dementia
Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 435 107 0.130 1.000 3 2004 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 233 19 0.110 1.000 1 2011 2011
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 63 3 0.100 0
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder
group Disease or Syndrome 166 0.100 0
CUI: C0017639
Disease: Gliosis
Gliosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 78 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 0
CUI: C4020860
Disease: Supratentorial atrophy
Supratentorial atrophy
disease Disease or Syndrome 142 1 0.100 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Finding 78 1 0.100 0
CUI: C0012569
Disease: Diplopia
Diplopia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 15 0.100 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 281 19 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders
group Nervous System Diseases Disease or Syndrome 57 0.100 0
CUI: C1854302
Disease: Involuntary jerking movements
Involuntary jerking movements
phenotype Finding 122 0.100 0