Property Summary

Ligand Count 146
NCBI Gene PubMed Count 114
PubMed Score 366.40
PubTator Score 342.59

Knowledge Summary

Patent (8,777)

TINX Plot

  Disease (7)

Disease Target Count
Myopathy 185
Hypokalemia 52
Acetazolamide responsive myotonia 1
Apneic episodes in infancy 2
Autosomal recessive predisposition 1442
Blepharoptosis 231
Cerebral palsy 40
Chest Pain 38
Chronic progressive external ophthalmoplegia 26
Congenital Myasthenic Syndromes, Postsynaptic 11
Creatine phosphokinase serum increased 110
Decreased to absent deep tendon reflexes 42
Deglutition Disorders 132
Easy fatigability 18
Electromyogram abnormal 49
Elevated creatine kinase 110
Episodic flaccid weakness 4
Episodic hypokalemia 4
Exercise-induced muscle fatigue 5
External Ophthalmoplegia 6
Feeding difficulties 127
Gait abnormality 135
Handgrip myotonia 3
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hyperglycemia, Postprandial 8
Hyperkalemia 17
Hypokalemic periodic paralysis type 1 3
Increased intramyocellular lipid droplets 13
Infantile onset 238
Inspiratory stridor 2
MYASTHENIC SYNDROME, CONGENITAL, 16 1
Mildly increased creatine kinase 20
Motor delay 147
Muscle Cramp 55
Muscle Hypertonia 88
Muscle Weakness 170
Muscular fasciculation 22
Muscular stiffness 12
Myalgia 54
Myasthenias 8
Myotonia Fluctuans (disorder) 1
No development of motor milestones 147
Noisy respiration 5
Paradoxical myotonia 1
Paramyotonia Congenita (disorder) 1
Percussion Myotonia 1
Periodic hypokalemic paresis 7
Phenotypic variability 150
Skeletal muscle hypertrophy 16
Stridor 5
Tires quickly 18
Variable expressivity 157
periodic paralysis (finding) 3
Disease Target Count
Epilepsy 792
Administration of Local Anesthetic Nerve Block 14
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Bipolar affective disorder, current episode manic 13
Bipolar disorder in remission 19
Cough 23
Dysuria 26
Epilepsy characterized by intractable complex partial seizures 28
Glossopharyngeal neuralgia 5
Hemorrhoids 13
Infestation by Phthirus pubis 7
Infestation by Sarcoptes scabiei var hominis 7
Itching of skin 18
Lennox-Gastaut syndrome 34
Life-Threatening Ventricular Tachycardia 15
Local Anesthesia for Endotracheal Intubation 6
Local Anesthesia for Ophthalmologic Procedure 7
Local Anesthesia for Urethral Pain 6
Local anesthesia 40
Local anesthesia, by infiltration 14
Local anesthetic intrathecal block 7
Localization-related epilepsy 13
Major Nerve Block for Surgery 8
Minor Skin Wound Pain 12
Mixed Epilepsy 3
Mixed bipolar I disorder 9
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 20
Parkinsonism 18
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 11
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Seizures following Cranial Trauma or Surgery 7
Pruritus ani 14
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Ophthalmologic Surgery 6
Regional Anesthesia for Postoperative Pain 9
Regional Anesthesia for Surgery 9
Seizures in Neurosurgery 7
Simple partial seizure 26
Skin irritation 12
Sore throat symptom 12
Spasticity 26
Status Epilepticus 98
Suppression of the Gag Reflex 12
Tachyarrhythmia 2
Tinea Infections 10
Tinea corporis 25
Tinea pedis 29
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Trigeminal Neuralgia 24
Urethritis 10
Urinary Tract Irritation 24
Ventricular arrhythmia 27
Disease Target Count P-value
psoriasis 6694 2.2e-16
breast carcinoma 1638 6.6e-04
osteosarcoma 7950 9.9e-04
ductal carcinoma in situ 1745 3.4e-03
invasive ductal carcinoma 2951 1.6e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Thyrotoxicosis 38 3.911 2.0
Malignant hyperthermia 26 3.496 1.7
Neuropathy 261 3.043 1.5

Expression

  Differential Expression (5)

Disease log2 FC p
breast carcinoma -1.500 6.6e-04
ductal carcinoma in situ -1.300 3.4e-03
invasive ductal carcinoma -1.400 1.6e-02
osteosarcoma -1.331 9.9e-04
psoriasis -1.200 2.2e-16

Gene RIF (80)

AA Sequence

MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEAGKNLPMIYGD      1 - 70
PPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVVRRGAIKVLIHALFSMFIMIT     71 - 140
ILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFV    141 - 210
DLGNISALRTFRVLRALKTITVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKC    211 - 280
VRWPPPFNDTNTTWYSNDTWYGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYF    281 - 350
LEGSNDALLCGNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG    351 - 420
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQEELEKAKAAQA    421 - 490
LEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEAHQKCPPWWYKCAHKVLIWNC    491 - 560
CAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHYPMTEHFDNVLTVGNLVFTGIFTAEMVLKLI    561 - 630
AMDPYEYFQQGWNIFDSIIVTLSLVELGLANVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGAL    631 - 700
GNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCM    701 - 770
EVAGQAMCLTVFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL    771 - 840
LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLADGPPSSLELD    841 - 910
HLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDGNSSVCSTADYKPPEEDPEEQ    911 - 980
AEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTLRRACFKIVEHNWFETFIVFMILLSSGALAF    981 - 1050
EDIYIEQRRVIRTILEYADKVFTYIFIMEMLLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYS   1051 - 1120
ELGPIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCI   1121 - 1190
NTTTSERFDISEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE   1191 - 1260
EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKK   1261 - 1330
PQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQLKVDILYNINMIFIIIFTGEC   1331 - 1400
VLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKYFVSPTLFRVIRLARIGRVLRLIRGAKGIRT   1401 - 1470
LLFALMMSLPALFNIGLLLFLVMFIYSIFGMSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDG   1471 - 1540
LLNPILNSGPPDCDPNLENPGTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSE   1541 - 1610
PLGEDDFEMFYETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL   1611 - 1680
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRRHLLQRSMKQA   1681 - 1750
SYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGDAGPTMGLMPISPSDTAWPPA   1751 - 1820
PPPGQTVRPGVKESLV                                                         1821 - 1836
//

Text Mined References (127)

PMID Year Title