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: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		disease Disease or Syndrome 1 6 0.730 strong 1.000 9 6 2013 2019
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: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		disease Nervous System Diseases Disease or Syndrome 40 2 0.320 strong 1.000 6 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: 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: 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.020 None 1.000 2 2001 2004
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2016 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: C0854193
Disease: Cognitive deterioration
Cognitive deterioration 		disease Mental or Behavioral Dysfunction 39 3 0.020 None 1.000 2 1 2013 2013
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: 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: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		disease Disease or Syndrome 1 7 0.700 strong 1.000 2 7 2015 2016
CUI: C4510873
Disease: Atypical juvenile parkinsonism
Atypical juvenile parkinsonism 		disease Disease or Syndrome 4 0.300 None 1.000 2 2013 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2017 2017
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: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.010 None 1.000 1 2001 2001
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: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2019 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.010 None 1.000 1 2017 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2012 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2011 2011
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2011 2011