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: C4751505
Disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments
PRKAR1B-related neurodegenerative dementia with intermediate filaments 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.300 None 1.000 2 2014 2014
CUI: C0523697
Disease: Histidine measurement
Histidine measurement 		phenotype Laboratory Procedure 2 2 0.100 None 1.000 1 1 2019 2019
CUI: C0523957
Disease: Tryptophan measurement
Tryptophan measurement 		phenotype Laboratory Procedure 3 3 0.100 None 1.000 1 1 2019 2019
CUI: C4022575
Disease: Inertia
Inertia 		phenotype Finding 4 0.100 None 0
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2014 2014
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		disease Anatomical Abnormality 8 3 0.100 None 0
CUI: C0233522
Disease: Inappropriate behavior
Inappropriate behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		phenotype Mental Disorders Finding 14 1 0.100 None 0
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy 		disease Disease or Syndrome 14 1 0.100 None 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		phenotype Finding 15 0.100 None 0
CUI: C3805715
Disease: Short stepped shuffling gait
Short stepped shuffling gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.100 None 0
CUI: C4304832
Disease: Primary pigmented nodular adrenocortical disease
Primary pigmented nodular adrenocortical disease 		disease Disease or Syndrome 22 1 0.010 None 1.000 1 2002 2002
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		disease Congenital Abnormality 31 1 0.010 None 1.000 1 2002 2002
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2019 2019
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 59 402 0.100 None 0 2
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype Nervous System Diseases Finding 60 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: C0406810
Disease: Carney Complex
Carney Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.020 None 1.000 2 2005 2006
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.100 None 0
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype Finding 108 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0