Property Summary

Ligand Count 22
NCBI Gene PubMed Count 656
PubMed Score 3394.70
PubTator Score 1509.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Dementia 175
Alexia 6
Dyslexia 43
Dysgraphia 20
ALZHEIMER DISEASE 2 5
Abnormal brain FDG positron emission tomography 9
Adult onset 82
Aggressive behavior 75
Aggressive reaction 75
Alzheimer disease, familial, type 3 1
Amyotrophic lateral sclerosis 451
Anxiety 136
Anxiety disease 113
Apathy 16
Apraxias 27
Babinski Reflex 100
Cerebral atrophy 178
Chronic furunculosis 2
Compulsive hoarding 7
Congestive heart failure 113
Cortical white matter abnormalities seen on MRI 18
Deglutition Disorders 132
Dementia of frontal lobe type 6
Depressive disorder 409
Developmental arithmetic disorder 8
Difficulty making arithmetical calculations 8
Dysarthria 192
Dysphasia 23
Dystonia 164
Dystonic disease 106
EEG with continuous slow activity 7
Echolalia 12
Epilepsy 792
Excess nuchal skin 30
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Forgetful 40
Frontotemporal cerebral atrophy 8
Gait abnormality 135
Gliosis 56
Grammar-specific speech disorder 6
Heart failure 162
Hidradenitis suppurativa 13
Hyperorality 7
Hyperphagia 23
Inappropriate laughter 4
Inappropriate sexual behavior 2
Increased appetite (finding) 23
Irritation - emotion 68
Isolated cases 72
LEFT VENTRICULAR NONCOMPACTION 10 40
LEFT VENTRICULAR NONCOMPACTION 8 40
Language Disorders 13
Leukoaraiosis 18
Loss of speech 16
Lower limb hyperreflexia 10
Memory Loss 40
Memory impairment 40
Mental Depression 333
Myoclonus 74
Neurodegenerative Disorders 79
Neurofibrillary degeneration (morphologic abnormality) 9
Neuronal loss 25
Parkinsonian Disorders 56
Perifolliculitis 1
Personality change 23
Physical aggression 76
Poor speech 37
Primary Progressive Nonfluent Aphasia 7
Primitive reflexes (palmomental, snout, glabellar) 7
Problems speaking 37
Rapidly progressive 27
Rapidly progressive disorder 27
Recurrent cutaneous abscess formation 4
Repeated speech 9
Restlessness 14
Restrictive behavior 7
Restrictive behavior, interests, and activities 7
Seizures 596
Semantic Dementia 7
Social disinhibition 14
Spastic tetraparesis 12
Spoken Word Recognition Deficit 6
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Syncope 22
Temporal cortical atrophy 6
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Dilated cardiomyopathy 56 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0

Expression

  Differential Expression (10)

Disease log2 FC p
progressive supranuclear palsy -1.100 3.7e-02
Down syndrome 1.100 5.1e-03
aldosterone-producing adenoma -1.123 3.7e-02
juvenile dermatomyositis 1.232 1.2e-12
malignant mesothelioma -1.400 8.3e-06
osteosarcoma 1.146 8.4e-04
ovarian cancer -1.200 6.8e-06
subependymal giant cell astrocytoma -2.065 3.0e-02
tuberculosis -1.900 4.8e-07
ulcerative colitis -1.100 1.6e-07

Synonym

Accession P49768 B2R6D3 O95465 Q14762 Q15719 Q15720 Q96P33 Q9UIF0 PS-1
Symbols AD3
FAD
PS1
PS-1
S182

Gene

Gene RIF (515)

AA Sequence

MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEED      1 - 70
EELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMI     71 - 140
SVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFIYLGEVFKTYNVAVDYITVALLIWNFGVVGM    141 - 210
ISIHWKGPLRLQQAYLIMISALMALVFIKYLPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNE    211 - 280
TLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGP    281 - 350
HRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCL    351 - 420
TLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI                           421 - 467
//

Text Mined References (667)

PMID Year Title