Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		disease 0.730 strong 1.000 9 6 2013 2019
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C4479313
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 		disease 0.700 strong 1.000 2 7 2015 2016
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		disease 0.320 strong 1.000 6 0 2013 2018
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C4510873
Disease: Atypical juvenile parkinsonism
Atypical juvenile parkinsonism 		disease 0.300 None 1.000 2 0 2013 2013
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.160 None 1.000 7 1 2012 2018
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.160 None 1.000 6 1 2013 2018
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.130 None 1.000 3 1 2015 2018
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.120 None 1.000 2 1 2015 2018
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 1 0 2016 2016
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0813217
Disease: Expressionless face
Expressionless face 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C1142448
Disease: Apraxia of eyelid
Apraxia of eyelid 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		disease 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		synaptojanin 1 0.576 0.577 0.43
CUI: C0241700
Disease: Voice Fatigue
Voice Fatigue 		phenotype 0.100 None 0 0