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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.700 None 0.971 682 62 1990 2020
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 0.971 308 42 1988 2020
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 0.958 165 50 1995 2020
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.900 None 0.993 142 105 1995 2020
Familial Alzheimer's disease of early onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 14 33 0.100 None 0.992 120 16 1995 2019
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.800 None 1.000 82 24 1995 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.800 None 1.000 79 18 1995 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.400 None 0.986 70 19 1990 2019
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3
disease Disease or Syndrome 1 15 0.400 None 1.000 62 15 1995 2018
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.200 None 0.983 58 22 1990 2019
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.400 None 0.938 48 4 1995 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.400 None 1.000 38 2 1997 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 37 6 1997 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 33 6 1998 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.500 None 0.966 29 3 2002 2020
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.100 None 1.000 28 7 1998 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.100 None 1.000 28 7 1998 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.100 None 1.000 28 7 1998 2019
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.200 None 0.944 18 8 2001 2016
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.200 None 1.000 15 3 1996 2018
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.200 None 1.000 14 6 1998 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 1.000 13 8 2000 2018
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 13 1995 2017
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 13 1995 2017
CUI: C4477086
Disease: Cotton wool plaques
Cotton wool plaques
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 4 0.100 None 1.000 12 2001 2013