PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
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: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction
phenotype Pathologic Function 16 1 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: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 72 24 0.100 None 0
CUI: C0919974
Disease: Abulia
Abulia
disease Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C0026884
Disease: Mutism
Mutism
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 47 4 0.100 None 0
CUI: C0869474
Disease: Dyscalculia
Dyscalculia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 0.100 None 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.100 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0
CUI: C0234144
Disease: Dysgraphia
Dysgraphia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 2 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 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: C4703584
Disease: Optic ataxia
Optic ataxia
phenotype Finding 1 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
CUI: C1838320
Disease: Hyperorality
Hyperorality
phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
Primitive reflexes (palmomental, snout, glabellar)
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold
phenotype Finding 58 4 0.100 None 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 6 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 5 0.100 None 0
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition
phenotype Organ or Tissue Function 23 0.100 None 0
CUI: C0422895
Disease: Primitive reflex
Primitive reflex
phenotype Finding 14 0.100 None 0
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.100 None 0