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: 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: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C0424296
Disease: Social disinhibition
Social disinhibition 		disease Mental Disorders Mental or Behavioral Dysfunction 56 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: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition 		phenotype Organ or Tissue Function 23 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: C0234509
Disease: Finger Agnosia
Finger Agnosia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 7 0.100 None 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		phenotype Behavior and Behavior Mechanisms Finding 19 0.100 None 0
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: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.080 None 0.875 8 1987 2013
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 114 12 0.010 None 1.000 1 1988 1988
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.040 None 1.000 4 1990 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.020 None 1.000 2 1990 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 1990 1990
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 1990 1990
CUI: C3810041
Disease: ALZHEIMER DISEASE 18
ALZHEIMER DISEASE 18 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 1990 1990
CUI: C0278601
Disease: Inflammatory Breast Carcinoma
Inflammatory Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 0.010 None 1.000 1 1990 1990