CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
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: C0334608
Disease: Angiomatous Meningioma
Angiomatous Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 18 0.300 None 1.000 1 2010 2010
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2008 2008
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 13 0.010 None 1.000 1 1995 1995
CUI: C0347515
Disease: Spinal Meningioma
Spinal Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 19 0.300 None 1.000 1 2010 2010
CUI: C0520678
Disease: Postpartum psychosis
Postpartum psychosis 		disease Mental Disorders Mental or Behavioral Dysfunction 19 0.010 None 1.000 1 2019 2019
CUI: C0334607
Disease: Psammomatous Meningioma
Psammomatous Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 22 0.300 None 1.000 1 2010 2010
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		disease Nervous System Diseases Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		disease Nervous System Diseases Disease or Syndrome 25 26 0.010 None 1.000 1 2017 2017
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		phenotype Finding 30 0.100 None 0
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 35 0.310 None 1.000 2 2005 2010
CUI: C0030389
Disease: Parainfluenza
Parainfluenza 		disease Infections Disease or Syndrome 36 1 0.010 None 1.000 1 2017 2017
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 3 0.300 None 1.000 1 2010 2010
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype Pathologic Function 41 6 0.100 None 0 1
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		group Nervous System Diseases Disease or Syndrome 43 0.010 None 1.000 1 2002 2002
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 1 2018 2018
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease Nervous System Diseases Disease or Syndrome 48 17 0.200 None 1.000 48 4 1993 2019
CUI: C0259785
Disease: Malignant Meningioma
Malignant Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 49 0.300 None 1.000 1 2010 2010
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 51 13 0.010 None 1.000 1 2001 2001
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 52 73 0.010 None 1.000 1 2001 2001
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 1.000 None 0.984 62 13 1994 2019
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 2008 2008
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.010 None 1.000 1 2008 2008
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0 1
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 70 8 0.010 None 1.000 1 2019 2019
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 71 9 0.080 None 1.000 8 1994 2019