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
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 0.992 120 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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.100 None 1.000 28 7 1998 2019
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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.100 None 1.000 28 7 1998 2019
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: 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: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.100 None 1.000 10 1 1997 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.090 None 1.000 9 1996 2019
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 0.080 None 1.000 8 1996 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.440 None 1.000 7 2000 2018
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.070 None 1.000 7 2 1997 2018