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: C4225186
Disease: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET 		disease Disease or Syndrome 1 5 0.700 None 1.000 2 5 2016 2018
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function 		disease Mental or Behavioral Dysfunction 12 0.100 None 0
CUI: C1112443
Disease: Male sexual dysfunction
Male sexual dysfunction 		disease Disease or Syndrome 12 0.100 None 0
CUI: C0425782
Disease: Breast size
Breast size 		phenotype Finding 16 38 0.100 None 1.000 1 1 2016 2016
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		phenotype Laboratory Procedure 17 28 0.100 None 1.000 2 3 2010 2018
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 20 0.100 None 0
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C1112442
Disease: Female sexual dysfunction
Female sexual dysfunction 		disease Mental or Behavioral Dysfunction 22 3 0.100 None 0
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 33 1 0.010 None 1.000 1 2016 2016
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia 		disease Disease or Syndrome 36 2 0.010 None < 0.001 1 2013 2013
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 40 4 0.100 None 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.100 None 0
CUI: C0085623
Disease: Akinesia
Akinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.100 None 0
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.010 None 1.000 1 2018 2018
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 57 5 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0
CUI: C0086769
Disease: Panic Attacks
Panic Attacks 		disease Mental Disorders Mental or Behavioral Dysfunction 59 3 0.100 None 0
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype Nervous System Diseases Finding 60 5 0.100 None 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		phenotype Nervous System Diseases Sign or Symptom 60 12 0.100 None 0
CUI: C0012569
Disease: Diplopia
Diplopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 75 5 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0