SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
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 0.160 None 1.000 7 1 2012 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.070 None 0.857 7 1 2014 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.160 None 1.000 6 1 2013 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.040 None 1.000 4 1 2013 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.040 None 1.000 4 2012 2018
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 11 0.040 None 1.000 4 2018 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.040 None 1.000 4 2012 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.030 None 1.000 3 1 2016 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.130 None 1.000 3 1 2015 2018
CUI: C0949664
Disease: Tauopathies
Tauopathies 		group Nervous System Diseases Disease or Syndrome 245 43 0.020 None 1.000 2 1 2015 2018
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.020 None 1.000 2 2013 2018
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.120 None 1.000 2 1 2015 2018
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 184 35 0.020 None 1.000 2 1 2015 2016
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration 		disease Mental or Behavioral Dysfunction 39 3 0.020 None 1.000 2 1 2013 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2016 2018
CUI: C4510873
Disease: Atypical juvenile parkinsonism
Atypical juvenile parkinsonism 		disease Disease or Syndrome 4 0.300 None 1.000 2 2013 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.020 None 1.000 2 2001 2004
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.020 None 1.000 2 2013 2015
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.020 None 1.000 2 1 2014 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2016 2016
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2011 2011
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2018 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2019 2019
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.010 None 1.000 1 2001 2001
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.010 None 1.000 1 2017 2017