Alzheimer Disease (AD)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alzheimer Disease

MalaCards integrated aliases for Alzheimer Disease:

Name: Alzheimer Disease 56 12 24 52 25 73 36 29 6 43 37 39 32
Alzheimer's Disease 12 74 25 53 42 3 15 62 17 71
Presenile and Senile Dementia 56 25 73
Familial Alzheimer Disease 25 29 71
Ad 56 25 73
Alzheimer Disease, Late-Onset, Susceptibility to 56 6
Alzheimer Disease, Susceptibility to 56 6
Alzheimer Disease 1, Familial 56 13
Alzheimer Disease, Early-Onset, with Cerebral Amyloid Angiopathy 6
Early-Onset Alzheimer Disease with Cerebral Amyloid Angiopathy 73
Primary Senile Degenerative Dementia 25
Autosomal Dominant Alzheimer Disease 73
Dementia Due to Alzheimer's Disease 71
Alzheimer's Disease Pathway Kegg 71
Alzheimer Disease, Late-Onset 56
Late-Onset Alzheimers Disease 17
Alzheimer Disease Type 1 71
Alzheimer-Type Dementia 25
Alzheimers Dementia 12
Alzheimer Disease 1 73
Alzheimer Sclerosis 25
Alzheimer Dementia 25
Alzheimer Syndrome 25
Alzheimers Disease 54
Sdat 25
Ad1 73
Dat 25



autosomal dominant

genetic heterogeneity


alzheimer disease:
Inheritance autosomal dominant inheritance heterogeneous


External Ids:

Disease Ontology 12 DOID:10652
OMIM 56 104300
KEGG 36 H00056
ICD9CM 34 331.0
MeSH 43 D000544
NCIt 49 C2866
SNOMED-CT 67 26929004
UMLS 71 C0002395 C0276496 C1521724 more

Summaries for Alzheimer Disease

Genetics Home Reference : 25 Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood. Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care. As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease. Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. Death usually results from pneumonia, malnutrition, or general body wasting (inanition). Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer disease.

MalaCards based summary : Alzheimer Disease, also known as alzheimer's disease, is related to early-onset, autosomal dominant alzheimer disease and alzheimer disease 2, and has symptoms including seizures, myoclonus and tremor. An important gene associated with Alzheimer Disease is APP (Amyloid Beta Precursor Protein), and among its related pathways/superpathways are Alzheimer disease and Alzheimers Disease. The drugs Dinoprostone and Rivastigmine have been mentioned in the context of this disorder. Affiliated tissues include Brain, and related phenotypes are dementia and parkinsonism

Disease Ontology : 12 A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.

NIH Rare Diseases : 52 Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic , which means they occur in people with no history of the disorder in their family. Although the cause of these cases is unknown, genetic changes are likely to play a role. Virtually all sporadic cases of Alzheimer disease begin after age 65, and the risk of developing this condition increases as a person gets older. AD can be subdivided into two groups based on the age of onset: (1) Early-onset (1%-6% of the cases) which start in people younger than 60- 65 years of age (2) Late-onset, which starts in people older than 65 years old. In about 25% of cases, AD is familial (2 or more people in a family have AD). For more information, please visit GARD's familial Alzheimer disease Web page.

OMIM : 56 Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT). Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. (104300)

MedlinePlus : 42 Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. AD begins slowly. It first involves the parts of the brain that control thought, memory and language. People with AD may have trouble remembering things that happened recently or names of people they know. A related problem, mild cognitive impairment (MCI), causes more memory problems than normal for people of the same age. Many, but not all, people with MCI will develop AD. In AD, over time, symptoms get worse. People may not recognize family members. They may have trouble speaking, reading or writing. They may forget how to brush their teeth or comb their hair. Later on, they may become anxious or aggressive, or wander away from home. Eventually, they need total care. This can cause great stress for family members who must care for them. AD usually begins after age 60. The risk goes up as you get older. Your risk is also higher if a family member has had the disease. No treatment can stop the disease. However, some drugs may help keep symptoms from getting worse for a limited time. NIH: National Institute on Aging

CDC : 3 The most common type of dementia. A progressive disease beginning with mild memory loss possibly leading to loss of the ability to carry on a conversation and respond to the environment. Involves parts of the brain that control thought, memory, and language. Can seriously affect a person's ability to carry out daily activities. Although scientists are learning more every day, right now, they still do not know what causes Alzheimer's disease.

NINDS : 53 Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older. There are three major hallmarks in the brain that are associated with the disease processes of AD. Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.

KEGG : 36 Alzheimer disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. It was proposed that Abeta form Ca2+ permeable pores and bind to and modulate multiple synaptic proteins, including NMDAR, mGluR5 and VGCC, leading to the overfilling of neurons with calcium ions. Consequently, cellular Ca2+ disruptions will lead to neuronal apoptosis, autophagy deficits, mitochondrial abnormality, defective neurotransmission, impaired synaptic plasticity and neurodegeneration in AD. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress.

UniProtKB/Swiss-Prot : 73 Alzheimer disease: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Alzheimer disease 1: A familial early-onset form of Alzheimer disease. It can be associated with cerebral amyloid angiopathy. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

PubMed Health : 62 About alzheimer's disease: Alzheimer's disease is the most common cause of dementia. It takes its name from the psychiatrist Alois Alzheimer, who in the early twentieth century was the first person to describe the disease. Over time, people who have Alzheimer’s lose their memory and ability to concentrate. Orientation in space and time become increasingly difficult, and it is also harder for them to manage on their own in everyday life. Those affected need more support as the disease progresses. The course of Alzheimer’s can be positively influenced by a number of different medications and non-drug treatments – but it is not possible to cure the disease or to keep it from progressing. This makes it even more critical for people with Alzheimer’s to receive good care and support: They need loving and stable relationships and a tolerant environment. Many family members need help and assistance too. There are other possible causes of dementia besides Alzheimer’s disease. These include problems with the flow of blood in the brain (vascular dementia). Some people – particularly older people – have both Alzheimer’s and vascular dementia. Medical conditions such as Parkinson’s disease, brain injuries or tumors can also cause dementia. Long-term heavy alcohol consumption may lead to dementia too. There are similarities, but also differences, between the different forms of dementia: The symptoms, the course the disease takes, and the treatment options can all vary. This overview is only about Alzheimer’s.

Wikipedia : 74 Alzheimer's disease (AD), also referred to simply as Alzheimer's, is a chronic neurodegenerative disease... more...

GeneReviews: NBK1161

Related Diseases for Alzheimer Disease

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 6
Alzheimer Disease 7 Alzheimer Disease 4
Alzheimer Disease 8 Alzheimer Disease 3
Alzheimer Disease 9 Alzheimer Disease 10
Alzheimer Disease 11 Alzheimer Disease 12
Alzheimer Disease 13 Alzheimer Disease 14
Alzheimer Disease 15 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Alzheimer's Disease 1 Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1997)
# Related Disease Score Top Affiliating Genes
1 early-onset, autosomal dominant alzheimer disease 35.6 PSEN1 APP
2 alzheimer disease 2 35.3 PSEN1 APP
3 dementia, lewy body 34.4 PSEN1 BACE1 APP
4 supranuclear palsy, progressive, 1 33.9 PSEN1 BACE1 APP
5 cerebral amyloid angiopathy, app-related 32.9 PSEN1 APP
6 cerebral amyloid angiopathy, cst3-related 32.5 PSEN1 BACE1 APP
7 stroke, ischemic 32.1 PSEN1 NOS3 CDKN2B-AS1 BACE1
8 prion disease 31.8 PSEN1 BACE1 APP
9 myocardial infarction 31.6 NOS3 MPO MIR34A MIR29B1 MIR146A HFE
10 disease of mental health 31.6 PSEN1 MIR29A MIR106B BACE1 APP
11 pick disease of brain 31.5 PSEN1 BACE1 APP
12 arteries, anomalies of 31.3 NOS3 MIR34A MIR29B1 MIR146A MIR106B
13 leukemia, acute myeloid 31.3 MPO MIR34A MIR328 MIR29B1 MIR29A MIR146A
14 periodontitis 31.2 MPO MIR146A CDKN2B-AS1
15 inclusion body myositis 31.1 MIR34A BACE1-AS APP
16 cervical cancer 31.1 MIR34A MIR29A MIR146A MIR106B CDKN2B-AS1 BCYRN1
17 cardiovascular system disease 31.0 NOS3 MPO MIR34A MIR29B1 MIR146A CDKN2B-AS1
18 aortic aneurysm, familial abdominal, 1 31.0 PLAU MIR29B1 CDKN2B-AS1
19 carotid stenosis 31.0 NOS3 MPO CDKN2B-AS1
20 kohlschutter-tonz syndrome 31.0 PSEN1 APP
21 leukemia, chronic lymphocytic 31.0 MIR34A MIR29B1 MIR29A MIR146A MIR107 MIR106B
22 glucose metabolism disease 30.7 NOS3 MIR29A MIR146A MIR106B
23 prostate disease 30.7 MIR34A MIR29A MIR146A MIR106B CDKN2B-AS1
24 oral squamous cell carcinoma 30.7 MIR34A MIR29B1 MIR29A MIR146A MIR107
25 gastrointestinal system disease 30.7 MIR34A MIR29B1 MIR29A MIR146A MIR106B
26 central nervous system disease 30.6 PSEN1 MIR34A MIR29B1 MIR29A MIR146A MIR106B
27 nervous system disease 30.4 MIR34A MIR29B1 MIR29A MIR146A MIR106B APP
28 hematologic cancer 30.4 MIR34A MIR29B1 MIR29A MIR146A MIR106B
29 breast disease 30.3 PLAU MIR34A MIR29B1 MIR146A
30 endocrine gland cancer 30.2 MIR34A MIR29B1 MIR29A MIR146A MIR106B
31 aortic valve disease 2 30.1 MIR34A MIR29B1 MIR106B
32 alzheimer disease 3 12.8
33 alzheimer disease 6 12.8
34 alzheimer disease 4 12.8
35 alzheimer disease 18 12.7
36 alzheimer disease 19 12.7
37 alzheimer disease 9 12.7
38 alzheimer disease mitochondrial 12.6
39 alzheimer disease 5 12.6
40 alzheimer disease 8 12.6
41 alzheimer disease 10 12.6
42 alzheimer disease 7 12.6
43 alzheimer disease 14 12.5
44 alzheimer disease 11 12.5
45 alzheimer disease 13 12.5
46 alzheimer disease 15 12.5
47 alzheimer disease 12 12.5
48 alzheimer disease 17 12.3
49 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 12.3
50 alzheimer disease 16 12.3

Comorbidity relations with Alzheimer Disease via Phenotypic Disease Network (PDN): (show top 50) (show all 52)

Active Peptic Ulcer Disease Acute Conjunctivitis
Acute Cystitis Acute Kidney Failure
Amnestic Disorder Bronchitis
Bronchopneumonia Cerebral Atherosclerosis
Cerebral Degeneration Cerebrovascular Disease
Communicating Hydrocephalus Conduct Disorder
Conjunctivitis Cystitis
Decubitus Ulcer Deficiency Anemia
Delusional Disorder Dental Caries
Dermatomycosis Encephalopathy
Folic Acid Deficiency Anemia Generalized Atherosclerosis
Heart Disease Hypoglycemia
Hypothyroidism Intermittent Explosive Disorder
Iron Deficiency Anemia Kidney Disease
Kohlschutter-Tonz Syndrome Latent Syphilis
Major Depressive Disorder Marasmus
Neurogenic Bladder Nutritional Deficiency Disease
Obstructive Hydrocephalus Ocular Motor Apraxia
Oral Candidiasis Osteoporosis
Paralytic Ileus Paranoid Schizophrenia
Parkinson Disease, Late-Onset Pernicious Anemia
Personality Disorder Protein-Energy Malnutrition
Pyelonephritis Scabies
Schizophrenia Schizophreniform Disorder
Status Epilepticus Swallowing Disorders

Graphical network of the top 20 diseases related to Alzheimer Disease:

Diseases related to Alzheimer Disease

Symptoms & Phenotypes for Alzheimer Disease

Human phenotypes related to Alzheimer Disease:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dementia 31 HP:0000726
2 parkinsonism 31 HP:0001300
3 neurofibrillary tangles 31 HP:0002185
4 senile plaques 31 HP:0100256
5 alzheimer disease 31 HP:0002511
6 long-tract signs 31 HP:0002423
7 decreased level of gaba in serum 31 HP:0410054

Symptoms via clinical synopsis from OMIM:

Neurologic Central Nervous System:
presenile and senile dementia
long tract signs
neurofibrillary tangles composed of disordered microtubules

Clinical features from OMIM:


UMLS symptoms related to Alzheimer Disease:

seizures, myoclonus, tremor, back pain, angina pectoris, headache, syncope, pain, chronic pain, sciatica, vertigo/dizziness, equilibration disorder, sleeplessness

Drugs & Therapeutics for Alzheimer Disease

PubMed Health treatment related to Alzheimer Disease: 62

People who have Alzheimer’s need long-term help and treatment . Depending on their needs, their life situation and the stage of disease, a whole team of people may be involved in providing care. These could include trained doctors, psychologists, nurses and social workers, as well as volunteers. Both treatment with medications and non-drug interventions aim to increase quality of life, keep the ability to do everyday tasks and stay independent for as long as possible, reduce mental health problems, and help family members to cope better. The most common medications used to treat Alzheimer’s disease include cholinesterase inhibitors , memantine and extracts from the leaves of the Ginkgo biloba tree. Examples of non-drug treatments include memory and orientation training, doing everyday activities as a group, or art therapy , aromatherapy , and animal-assisted or music therapy. Physical activities and massages can help too. Caregiver training for family members is important too.

Drugs for Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 624)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Dinoprostone Approved Phase 4 363-24-6 5280360
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
Atorvastatin Approved Phase 4 134523-00-5 60823
Sertraline Approved Phase 4 79617-96-2 68617
Haloperidol Approved Phase 4 52-86-8 3559
Citalopram Approved Phase 4 59729-33-8 2771
Norepinephrine Approved Phase 4 51-41-2 439260
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
Simvastatin Approved Phase 4 79902-63-9 54454
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
Acetaminophen Approved Phase 4 103-90-2 1983
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
Ramipril Approved Phase 4 87333-19-5 5362129
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
Metformin Approved Phase 4 657-24-9 14219 4091
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
Pravastatin Approved Phase 4 81093-37-0 54687
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Racepinephrine Approved Phase 4 329-65-7 838
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
Iodine Approved, Investigational Phase 4 7553-56-2 807
Huperzine A Approved, Experimental Phase 4 102518-79-6
Memantine Approved, Investigational Phase 4 19982-08-2 4054
Galantamine Approved Phase 4 357-70-0 9651
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
Quinidine Approved, Investigational Phase 4 56-54-2 441074
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
Amisulpride Approved, Investigational Phase 4 53583-79-2, 71675-85-9 2159
Sodium oxybate Approved Phase 4 502-85-2 5360545
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
Choline Approved, Nutraceutical Phase 4 62-49-7 305
43 Tandospirone Investigational Phase 4 87760-53-0
Corticosterone Experimental Phase 4 50-22-6 5753
45 Fallypride Investigational Phase 4 166173-78-0
46 Gastrodia Phase 4
47 Gastrointestinal Agents Phase 4
48 Dopamine agonists Phase 4
49 Dopamine Antagonists Phase 4
50 Antiemetics Phase 4

Interventional clinical trials:

(show top 50) (show all 3041)
# Name Status NCT ID Phase Drugs
1 Effect of the Stage Specific Cognitive Intervention Program on Functional Cortical Activation in Alzheimer's Disease Unknown status NCT01329601 Phase 4
2 A Multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial to Assess the Efficacy of Acetyl-L-carnitine in Patient With Alzheimer's Disease Unknown status NCT02955706 Phase 4 Acetyl-L-Carnitine;Placebo of Acetyl-L-Carnitine
3 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage Alzheimer's Disease Having Coexisting Small Vessel Cerebrovascular Disease Unknown status NCT02444637 Phase 4 Rivastigmine
4 Memantine Treatment in Alzheimer's Disease Patients Stratified With Behavioral and Psychological Symptoms of Dementia (BPSD) Symptoms and Cognitive Severity: A Multi-center, Open-label, Parallel-group and Prospective Clinical Study Unknown status NCT03168997 Phase 4 Memantine Hydrochloride
5 A Multicenter, Randomized, Open-label, Prospective Study to Estimate the add-on Effects of Memantine as Ebixa Oral Pump on Language in Moderate to Severe Alzheimer's Disease Patients Already Receiving Donepezil. Unknown status NCT01849042 Phase 4 Ebixa;donepezil
6 A Randomised Placebo Controlled Trial of a Cholinesterase Inhibitor in the Management of Agitation in Dementia That is Unresponsive to a Psychological Intervention Unknown status NCT00142324 Phase 4 Donepezil
7 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
8 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Dementia/MCI) Unknown status NCT00306124 Phase 4 Levodopa
9 Phase IV Study of General Clinical Research Center Of the Jinan Mental Hospital(TAIWAN) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
10 Diffusion Tensor Weighted MRI in Alzheimer's Disease: Prediction and Mapping of Symptomatic and Disease Modifying Treatment Effects of Galantamine (Reminyl®) Unknown status NCT00523666 Phase 4 Galantamine (Reminyl®);Placebo/Galantamine (Reminyl®)
11 A Clinical Trial for an Evaluation of Choline Alfoscerate and Donepezil for Cognitive Improvements of Patients With Cerebrovascular Injury in Alzheimer Patients Unknown status NCT02648906 Phase 4 Choline alfoscerate;Placebo
12 A Based on PEEG and PET Study of Anxiolytic Treatment to Improve Cognitive Function in Patients With Alzheimer Disease Unknown status NCT03151382 Phase 4 Tandospirone Citrate;Donepezil Hydrochloride
13 Insulin Resistance and Mild Cognitive Impairment (MCI) in Older Chinese Adults With Pre-Diabetes and Diabetes: Cognitive Effects of Lifestyle Intervention and Metformin Treatment in a Randomized Controlled Trial Unknown status NCT02409238 Phase 4 Metformin
14 Exploratory Study to Assess the Efficacy of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4 Escitalopram
15 Pragmatic Randomized Control Trial of Memantine For Agitation In Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
16 A Pilot Study of Memantine for Cognitive and Behavioral Dysfunction in Huntington's Disease" Unknown status NCT00652457 Phase 4 Memantine
17 Gastrodin Prevents Cognitive Decline Related to Cardiopulmonary Bypass Unknown status NCT00297245 Phase 4 cognitive function
18 Huperzine-A for Cognitive Dysfunction and Functional Status in Schizophrenia Unknown status NCT01012830 Phase 4 Huperzine A
19 Donepezil Treatment for Sleep Apnea Patients: A Double Blind Placebo-Controlled Study Unknown status NCT00912457 Phase 4 donepezil;placebo
20 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
21 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Unknown status NCT00196703 Phase 4 memantine
22 Donepezil for Residual Symptoms in CPAP Treated Obstructive Sleepapnea Patients: A Controlled Study Unknown status NCT03299257 Phase 4 donepezil treatment
23 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
24 Markers of Alzheimers Disease and Cognitive Outcomes After Perioperative Care Completed NCT01993836 Phase 4 Total intravenous anesthesia with propofol;General anesthesia with isoflurane
25 Alzheimer's Disease Long-term Follow-up Study (ALF Study) Completed NCT00165724 Phase 4 Donepezil Hydrochloride
26 Interventional, Randomised, Double-blind, Study to Evaluate the Safety and Tolerability of Once Daily Versus Twice Daily Memantine Treatment in Patients With Dementia of Alzheimer's Type and MMSE Range 5 - 18 Completed NCT02553928 Phase 4 Memantine (once daily);Memantine (twice daily)
27 A 12 Week, Multicenter, Open Label Evaluation of Caregiver Preference, Safety and Tolerability of Exelon® Patch (Rivastigmine Transdermal) in Patients With Alzheimer's Disease Completed NCT01047579 Phase 4 Rivastigmine transdermal
28 A 12-Week, Multicenter, Open-Label Study to Evaluate the Effectiveness and Safety of Donepezil Hydrochloride (Aricept) in Hispanic Patients With Mild to Moderate Alzheimer's Disease Completed NCT00230568 Phase 4 Aricept
29 A 24-week, Open-label, Multicenter Study to Evaluate the Efficacy, Safety and Tolerability of Rivastigmine Patch in Patients With Mild to Moderate Alzheimer's Disease (MMSE 10-23) Switched From Cholinesterase Inhibitors (Donepezil, Galantamine) Completed NCT01529619 Phase 4 Rivastigmine transdermal patch
30 A Randomized, Double-Blind, Placebo-Controlled Evaluation of the Efficacy of Memantine on Functional Communication in Patients With Alzheimer's Disease (AD) Completed NCT00469456 Phase 4 Memantine;placebo
31 An Open-Label Exploratory Study With Memantine: Assessment of Selected Measures of Volumetric MRI and Cognition in Patients With Moderate Dementia of the Alzheimer's Type Completed NCT00334906 Phase 4 memantine HCl
32 Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer's Disease Completed NCT00104442 Phase 4 Rivastigmine
33 A Multi-center Study for the Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer's Disease Completed NCT00381381 Phase 4 Donepezil
34 A 24-week, Multi-center, Open-label Evaluation of Compliance and Tolerability of the Once-daily 10 cm² Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease. Completed NCT00731224 Phase 4 Rivastigmine transdermal patch
35 Safety and Efficacy of Donepezil HCl 23 mg in Patients With Moderate to Severe Alzheimer's Disease Completed NCT02097056 Phase 4 Donepezil HCL
36 The Feasibility and Reliability of Utilizing Commercially Available Quantitative Analysis Software as an Adjunct to the Clinical Qualitative Interpretation of Amyvid Brain Scans Completed NCT01946243 Phase 4 Florbetapir F18
37 A Single-site Positron Emission Tomography (PET) Study of the Cerebral Metabolic Effects of AC-1202 (Axona®) Treatment in Mild-to-Moderate Alzheimer's Disease (AD) Completed NCT01122329 Phase 4
38 A 12-Week, Multicenter, Open Label Study To Evaluate The Effectiveness And Safety Of Donepezil Hydrochloride (E2020) In Subjects With Mild To Severe Alzheimer's Disease Residing In An Assisted Living Facility Completed NCT00571064 Phase 4 Donepezil HCl
39 A 24-week, Open-label, Multicenter Study to Evaluate the Efficacy, Safety and Tolerability of Rivastigmine Patch With 1-step Titration in Patients With Mild to Moderate Alzheimer's Disease (MMSE 10 - 23) Switched Directly From Holinesterase Inhibitors (Donepezil, Galantamine) Completed NCT02703636 Phase 4 Rivastigmine Patch
40 A 24-week, Multi-center, Open, Evaluation of the Clinical Effectiveness of the Once-daily 10 cm^2 Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease (MMSE10-26) Completed NCT00561392 Phase 4 Rivastigmine 5 and 10 cm^2 patch
41 A Prospective, Open-labeled, Multicenter Study of Galantamine on the Attention and Frontal Function of the Patients With Dementia of Alzheimer Type Completed NCT00216515 Phase 4 galantamine hydrobromide
42 Escitalopram in the Treatment of Patients With Agitated Dementia Completed NCT00260624 Phase 4 Escitalopram (Lexapro)
43 A Prospective, 26-Week, Open-Label, Multi-Center, Single-Arm Pilot Study to Evaluate the Safety and Tolerability of Rivastigmine Capsule With Add on Memantine HCl in Patients With Probable Alzheimer's Disease (MMSE 10-20) Completed NCT00305903 Phase 4 Rivastigmine, memantine
44 Evaluation of Reader Training Processes by Comparing Clinical Interpretations to Centralized Expert Reads Completed NCT02051790 Phase 4 florbetapir F 18
45 A Study to Evaluate the Improvement in Reader Accuracy When Using a Read Method That Incorporates Commercially Available Quantitative Analysis Software as an Adjunct to the Clinical Visual Interpretation of Amyvid Brain Scans Completed NCT02107599 Phase 4 Florbetapir (18F)
46 Assessment of the Comparative Effect of Donepezil 10mg/d and Placebo on Clinical and Radiological Markers in Patients With Mild Cognitive Disorders Completed NCT00403520 Phase 4 Experimental 1;Placebo Comparator
47 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4 Memantine;Placebo
48 16 Weeks Interventional Study on Titration and Dose/Efficacy Assessment of Exelon (Rivastigmine) in Chinese Alzheimer's Disease Patients (INSTINCT) Completed NCT01948791 Phase 4 ENA713
49 Double Blind Medium Term Efficacy Study of Trp01 in Patients With Mild to Moderate Alzheimer's Disease Completed NCT00202124 Phase 4 Tryptophan
50 An Open-label Study to Evaluate the Efficacy and Safety of add-on Memantine [5-10 mg b.i.d (10-20 mg/Day)] to Rivastigmine [1.5-6 mg b.i.d. (3-12 mg/Day)] Treatment in Patients With Alzheimer's Disease Who Continued With Rivastigmine Treatment After a Previous Decline While on Donepezil or Galantamine Treatment Completed NCT00234637 Phase 4 Rivastigmine, memantine

Search NIH Clinical Center for Alzheimer Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :

alpha-Tocopherol Acetate
d-alpha-Tocopheryl Acetate
Divalproex Sodium
dl-alpha tocopheryl acetate
Donepezil hydrochloride
galantamine hydrobromide
Rivastigmine tartrate
selegiline hydrochloride
Sodium Valproate
Tacrine Hydrochloride
Tocopherol Acetate
Valproic Acid
Vitamin E

Cell-based therapeutics:

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Alzheimer Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Alzheimer Disease:
NEUROSTEM-AD, human mesenchymal stem cells for the treatment of Alzheimer's disease
Embryonic/Adult Cultured Cells Related to Alzheimer Disease:
Umbilical cord blood-derived mesenchymal stem/progenitor cells PMIDs: 23293711 22015609

Cochrane evidence based reviews: alzheimer disease

Genetic Tests for Alzheimer Disease

Genetic tests related to Alzheimer Disease:

# Genetic test Affiliating Genes
1 Alzheimer Disease 29 A2M APP HFE MPO NOS3 PLAU
2 Familial Alzheimer Disease 29

Anatomical Context for Alzheimer Disease

MalaCards organs/tissues related to Alzheimer Disease:

Brain, Testes, Cortex, Heart, Temporal Lobe, Endothelial, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alzheimer Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Brain Hippocampus Affected by disease
2 Brain Forebrain White Matter Fibrous Astrocyte Cells Affected by disease, potential therapeutic candidate
3 Blood Cord Blood Mesenchymal Stem Cells Potential therapeutic candidate
4 Brain Forebrain White Matter Myelinating Oligodendrocyte Cells Affected by disease
5 Brain Neocortex Protoplasmic Astrocyte Cells Affected by disease, potential therapeutic candidate

Publications for Alzheimer Disease

Articles related to Alzheimer Disease:

(show top 50) (show all 48351)
# Title Authors PMID Year
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. 61 6 56
22801501 2012
Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease. 61 56 6
16908746 2006
Towards compendia of negative genetic association studies: an example for Alzheimer disease. 6 61 56
16341549 2006
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. 61 6 56
16369530 2006
Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms. 61 6 56
15023809 2004
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. 6 56
19286555 2009
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. 56 6
15060098 2004
Current concepts in mild cognitive impairment. 6 56
11735772 2001
Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease. 54 6 61
20029940 2010
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. 54 61 56
20457965 2010
Implication of sex and SORL1 variants in italian patients with Alzheimer disease. 54 61 56
19822782 2009
Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease. 54 56 61
19738170 2009
A survey of ABCA1 sequence variation confirms association with dementia. 56 54 61
19606474 2009
Alpha7 nicotinic receptor up-regulation in cholinergic basal forebrain neurons in Alzheimer disease. 54 56 61
18071042 2007
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. 61 56 54
17220890 2007
Genetic association between endothelial nitric oxide synthase and Alzheimer disease. 6 61 54
16813604 2006
Reelin expression and glycosylation patterns are altered in Alzheimer's disease. 61 56 54
16567613 2006
Association study of the A2M and LRP1 Genes with Alzheimer disease in the Han Chinese. 61 54 56
16040006 2005
Subgroups of Alzheimer's disease based on cerebrospinal fluid molecular markers. 56 61 54
16247771 2005
Correlation of cerebrospinal fluid levels of tau protein phosphorylated at threonine 231 with rates of hippocampal atrophy in Alzheimer disease. 61 56 54
15883264 2005
Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism. 56 54 61
15024730 2004
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. 61 54 56
14570706 2003
Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. 56 61 54
12533085 2003
NOS3 polymorphism not associated with Alzheimer's disease in Japanese. 61 54 6
11026457 2000
Association between Alzheimer's disease and the NOS3 gene. 61 54 6
10514107 1999
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. 54 61 56
10441572 1999
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue. 56 61 54
9050898 1997
Functional aspects of meningeal lymphatics in ageing and Alzheimer's disease. 56 61
30046111 2018
Microglia-derived ASC specks cross-seed amyloid-β in Alzheimer's disease. 61 56
29293211 2017
A Becn1 mutation mediates hyperactive autophagic sequestration of amyloid oligomers and improved cognition in Alzheimer's disease. 56 61
28806762 2017
Structural variation in amyloid-β fibrils from Alzheimer's disease clinical subtypes. 61 56
28052060 2017
A novel Aβ-fibrinogen interaction inhibitor rescues altered thrombosis and cognitive decline in Alzheimer's disease mice. 61 56
24821909 2014
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 6 61
24829003 2014
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 56 61
24162737 2013
Clinical and biomarker changes in dominantly inherited Alzheimer's disease. 61 56
22784036 2012
Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. 56 61
22278060 2012
Functional links between Aβ toxicity, endocytic trafficking, and Alzheimer's disease risk factors in yeast. 61 56
22033521 2011
Visinin-like protein-1: diagnostic and prognostic biomarker in Alzheimer disease. 61 56
21823155 2011
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 61 56
21460840 2011
Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. 56 61
21059989 2011
Meta-analysis of the association between variants in SORL1 and Alzheimer disease. 56 61
21220680 2011
Decreased clearance of CNS beta-amyloid in Alzheimer's disease. 56 61
21148344 2010
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. 56 61
20697030 2010
EFNS guidelines for the diagnosis and management of Alzheimer's disease. 6 61
20831773 2010
Modulation of gamma-secretase reduces beta-amyloid deposition in a transgenic mouse model of Alzheimer's disease. 56 61
20826309 2010
Replication of CLU, CR1, and PICALM associations with alzheimer disease. 56 61
20554627 2010
Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. 61 56
20167577 2010
Preventing Alzheimer's disease and cognitive decline. 6 61
21500874 2010
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. 54 61 24
20375137 2010
A phase 2 multiple ascending dose trial of bapineuzumab in mild to moderate Alzheimer disease. 56 61
19923550 2009

Variations for Alzheimer Disease

ClinVar genetic disease variations for Alzheimer Disease:

6 (show top 50) (show all 134) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOE NM_000041.4(APOE):c.388T>C (p.Cys130Arg)SNV Likely pathogenic,risk factor 17864 rs429358 19:45411941-45411941 19:44908684-44908684
2 MPO MPO, -463G-ASNV protective,risk factor 3633
3 APP NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)inversion Pathogenic 18093 rs281865161 21:27269938-27269939 21:25897626-25897627
4 APP NM_000484.4(APP):c.2075C>G (p.Ala692Gly)SNV Pathogenic 18091 rs63750671 21:27264170-27264170 21:25891858-25891858
5 APP NM_000484.4(APP):c.2149G>T (p.Val717Phe)SNV Pathogenic 18089 rs63750264 21:27264096-27264096 21:25891784-25891784
6 APP NM_000484.4(APP):c.2149G>A (p.Val717Ile)SNV Pathogenic 18088 rs63750264 21:27264096-27264096 21:25891784-25891784
7 APP NM_000484.4(APP):c.2018C>T (p.Ala673Val)SNV Pathogenic 18106 rs193922916 21:27269931-27269931 21:25897619-25897619
8 APP APP, DUPduplication Pathogenic 18104
9 APP NM_000484.4(APP):c.2080G>A (p.Asp694Asn)SNV Pathogenic 18101 rs63749810 21:27264165-27264165 21:25891853-25891853
10 APP NM_000484.4(APP):c.2078A>G (p.Glu693Gly)SNV Pathogenic 18098 rs63751039 21:27264167-27264167 21:25891855-25891855
11 PSEN1 NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)SNV Pathogenic 599627 rs1566630910 14:73640359-73640359 14:73173651-73173651
12 subset of 25 genes: APP NC_000021.7:g.13636378_28138533dupduplication Pathogenic 127268 21:14714507-29216662
13 A2M NM_000014.5(A2M):c.2998A>G (p.Ile1000Val)SNV risk factor 18171 rs669 12:9232268-9232268 12:9079672-9079672
14 VCP NM_007126.5(VCP):c.409C>T (p.Pro137Ser)SNV Likely pathogenic 599629 rs866101707 9:35066708-35066708 9:35066711-35066711
15 CSF1R NM_005211.3(CSF1R):c.2326C>T (p.His776Tyr)SNV Likely pathogenic 599608 rs1561905293 5:149435898-149435898 5:150056335-150056335
16 CSF1R NM_005211.3(CSF1R):c.2671G>C (p.Ala891Pro)SNV Likely pathogenic 599607 rs1561901881 5:149433977-149433977 5:150054414-150054414
17 MAPT NM_016835.4(MAPT):c.2035C>T (p.His679Tyr)SNV Likely pathogenic 599620 rs1568339995 17:44096070-44096070 17:46018704-46018704
18 GRN NM_002087.3(GRN):c.264+1G>ASNV Likely pathogenic 599611 rs1567885728 17:42426920-42426920 17:44349552-44349552
19 PSEN1 NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser)SNV Likely pathogenic 599625 rs1566657804 14:73685890-73685890 14:73219182-73219182
20 PSEN1 NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe)SNV Likely pathogenic 599628 rs1566656702 14:73683881-73683881 14:73217173-73217173
21 PSEN1 NM_000021.4(PSEN1):c.869-1G>ASNV Likely pathogenic 599622 rs63750219 14:73673093-73673093 14:73206385-73206385
22 PSEN1 NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro)SNV Likely pathogenic 599623 rs63750009 14:73659468-73659468 14:73192760-73192760
23 PSEN1 NM_000021.4(PSEN1):c.510_511insTAT (p.Leu171_Leu172insTyr)insertion Likely pathogenic 599624 rs1566638673 14:73653589-73653590 14:73186881-73186882
24 TNF NM_000594.3(TNF):c.-1037C>TSNV risk factor 12389 rs1799724 6:31542482-31542482 6:31574705-31574705
25 PSEN1 NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)SNV Conflicting interpretations of pathogenicity 98004 rs63750592 14:73637521-73637521 14:73170813-73170813
26 HFE NM_000410.3(HFE):c.187C>G (p.His63Asp)SNV Conflicting interpretations of pathogenicity, other 10 rs1799945 6:26091179-26091179 6:26090951-26090951
27 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)SNV Conflicting interpretations of pathogenicity, other 9 rs1800562 6:26093141-26093141 6:26092913-26092913
28 APP NM_000484.4(APP):c.2137G>A (p.Ala713Thr)SNV Conflicting interpretations of pathogenicity 18094 rs63750066 21:27264108-27264108 21:25891796-25891796
29 APP NM_000484.4(APP):c.592T>C (p.Ser198Pro)SNV Conflicting interpretations of pathogenicity 339645 rs145081708 21:27423386-27423386 21:26051070-26051070
30 APP NM_000484.4(APP):c.618G>A (p.Ser206=)SNV Conflicting interpretations of pathogenicity 339643 rs201022619 21:27423360-27423360 21:26051044-26051044
31 APP NM_000484.4(APP):c.1689T>C (p.Asp563=)SNV Conflicting interpretations of pathogenicity 339633 rs137865262 21:27284273-27284273 21:25911961-25911961
32 APP NM_000484.4(APP):c.885C>T (p.Ala295=)SNV Conflicting interpretations of pathogenicity 704545 21:27372478-27372478 21:26000163-26000163
33 APP NM_000484.4(APP):c.1458+10G>ASNV Conflicting interpretations of pathogenicity 585429 rs201290605 21:27347373-27347373 21:25975060-25975060
34 APP NM_000484.4(APP):c.663-9C>ASNV Conflicting interpretations of pathogenicity 524209 rs199587668 21:27394367-27394367 21:26022051-26022051
35 APP NM_000484.4(APP):c.355+6C>TSNV Uncertain significance 524208 rs1555873548 21:27462253-27462253 21:26089937-26089937
36 UNC13C NM_001329919.2(UNC13C):c.1326_1328GAA[1] (p.Lys443del)short repeat Uncertain significance 427849 rs746069739 15:54306424-54306426 15:54014227-54014229
37 APP NM_000484.4(APP):c.1280A>T (p.Asp427Val)SNV Uncertain significance 649787 21:27348286-27348286 21:25975973-25975973
38 APP NM_000484.4(APP):c.1090C>T (p.Leu364Phe)SNV Uncertain significance 645976 21:27369675-27369675 21:25997360-25997360
39 APP NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln)indel Uncertain significance 662051 21:27369678-27369687 21:25997363-25997372
40 APP NM_000484.4(APP):c.1030G>A (p.Ala344Thr)SNV Uncertain significance 653874 21:27372333-27372333 21:26000018-26000018
41 APP NM_000484.4(APP):c.819_821CAC[5] (p.Thr279_Thr280del)short repeat Uncertain significance 664060 21:27394182-27394187 21:26021866-26021871
42 APP NM_000484.4(APP):c.803G>A (p.Arg268Lys)SNV Uncertain significance 644611 21:27394218-27394218 21:26021902-26021902
43 APP NM_000484.4(APP):c.298C>T (p.Arg100Trp)SNV Uncertain significance 657080 21:27462316-27462316 21:26090000-26090000
44 APP NM_000484.4(APP):c.1090+4C>TSNV Uncertain significance 640843 21:27369671-27369671 21:25997356-25997356
45 APP NM_000484.4(APP):c.*356T>GSNV Uncertain significance 896311 21:27253625-27253625 21:25881314-25881314
46 APP NM_000484.4(APP):c.*355A>GSNV Uncertain significance 897920 21:27253626-27253626 21:25881315-25881315
47 APP NM_000484.4(APP):c.*289C>TSNV Uncertain significance 897921 21:27253692-27253692 21:25881381-25881381
48 APP NM_000484.4(APP):c.*7G>ASNV Uncertain significance 897922 21:27253974-27253974 21:25881663-25881663
49 APP NM_000484.4(APP):c.2175G>C (p.Lys725Asn)SNV Uncertain sign