PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: C1969363
Disease: Middle age onset
Middle age onset 		phenotype Finding 5 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: C0003537
Disease: Aphasia
Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.100 None 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 92 14 0.100 None 0
CUI: C3711380
Disease: Huntington Disease-Like Syndrome
Huntington Disease-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.100 None 0 1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C4022794
Disease: Parietal hypometabolism in FDG PET
Parietal hypometabolism in FDG PET 		phenotype Finding 3 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype Finding 8 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
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.010 None < 0.001 1 2016 2016
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None < 0.001 1 1 1999 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.080 None 0.875 8 1987 2013
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.400 None 0.940 83 10 1995 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.400 None 0.972 36 10 1997 2020
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 14 33 0.100 None 0.976 41 3 1995 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.500 None 0.977 177 12 1995 2020
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 2 13 0.600 None 1.000 29 13 1995 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 1.000 25 1 1984 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 23 1 1984 2017