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: C1335107
Disease: Olfactory Groove Meningioma
Olfactory Groove Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 2 0.300 None 1.000 1 2010 2010
CUI: C0751304
Disease: Parasagittal Meningioma
Parasagittal Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.300 None 1.000 1 2010 2010
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: C0751303
Disease: Cerebral Convexity Meningioma
Cerebral Convexity Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2010 2010
CUI: C0347515
Disease: Spinal Meningioma
Spinal Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 19 0.300 None 1.000 1 2010 2010
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.300 None 1.000 1 2012 2012
CUI: C0334609
Disease: Hemangioblastic Meningioma
Hemangioblastic Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0.300 None 1.000 1 2010 2010
CUI: C0431121
Disease: Clear Cell Meningioma
Clear Cell Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 14 0.300 None 1.000 1 2010 2010
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: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2000 2000
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.160 None 1.000 6 1997 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.140 None 1.000 4 1998 2016
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.120 None 1.000 2 2005 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.110 None 1.000 1 1997 1997
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 8 2 2002 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 8 1 2002 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 8 3 2002 2017
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: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0 1
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.100 None 0 2
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0 1
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0