Property Summary

Ligand Count 2,973
NCBI Gene PubMed Count 133
PubMed Score 379.25
PubTator Score 313.92

Knowledge Summary

Patent (40,955)

TINX Plot

  Disease (9)

Disease Target Count
Neuropathy 261
Abnormal behavior 52
Abnormal cortical bone morphology 22
Abnormality of epiphysis morphology 39
Abnormality of metabolism/homeostasis 134
Abnormality of the ankles 5
Abnormality of the hip bone 16
Abnormality of the knee 6
Abnormality of the musculature 16
Absence Epilepsy 22
Absence of pain sensation 5
Absent reflex 92
Absent tendon reflex 92
Acral ulceration leading to autoamputation of digits 3
Acro-Osteolysis 12
Anhidrosis 23
Anosmia 22
Autonomic nervous system disorders 19
Autosomal recessive predisposition 1442
Blurred vision 19
Bradycardia 36
Cerebellar Ataxia 304
Cognitive delay 608
Congenital Pain Insensitivity 6
Constipation 181
Decreased bone mineral density Z score 31
Decreased nerve conduction velocity 35
Decreased number of large and small myelinated fibers 20
Decreased pain sensation 17
Decreased sensory nerve conduction velocities (NCV) 8
Decreased tendon reflex 122
Diarrhea 253
Disorder of eye 27
Dysautonomia 20
Dyschezia 135
Dystrophic fingernails 18
Dystrophic toenail changes 12
Electroencephalogram abnormal 101
Elevated heart rate 25
Epileptic drop attack 11
Erythema 58
Eye Abnormalities 35
Eye pain 2
Febrile Convulsions 14
Feeding difficulties in infancy 175
Flushing 60
Focal Clonic Seizures 9
Foot acroosteolysis 5
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 7
Gastroesophageal reflux disease 110
Generalized Epilepsy With Febrile Seizures Plus, 7 1
Generalized myoclonic seizures 30
Global developmental delay 608
Heartburn 78
Hereditary Motor and Sensory-Neuropathy Type II 4
Hereditary Sensory Autonomic Neuropathy, Type 5 5
Highly variable severity 157
Hyperhidrosis disorder 81
Hyperhidrosis, episodic 4
Hypogeusia 5
Hypohidrosis 34
Hypotonic seizures 11
Increased sweating 81
Infantile Severe Myoclonic Epilepsy 8
Infantile onset 238
Jaw pain 2
Lacrimation abnormality 4
Lordosis 54
Mental and motor retardation 608
Muscle hypotonia 571
Myalgia 54
Myoclonic Epilepsies, Progressive 44
Neonatal onset 21
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Obtundation status 7
Pain 103
Painless fractures due to injury 5
Palpitations 18
Paronychia Inflammation 9
Peripheral Neuropathy 134
Photosensitivity of skin 51
Primary Erythermalgia 3
Reflex, Deep Tendon, Absent 92
Seizures 596
Seizures, Focal 14
Sense of smell impaired 21
Skeletal muscle atrophy 139
Slow progression 89
Structure of wormian bone 24
Sweating 81
Tachycardia 43
Tapering fingers (finding) 25
Tonic - clonic seizures 44
Tremor 113
Urinary Incontinence 50
Variable expressivity 157
Xerostomia 42
muscle degeneration 139
Disease Target Count
Epilepsy 792
Administration of Corneal Anesthesia 6
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 Epilepsy Treatment Adjunct 16
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
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 Z-score Confidence
Breast cancer 3578 0.0 0.8
Carcinoma 11493 0.0 1.2
DOID:2627 94 0.0 0.7
Kidney cancer 2613 0.0 0.9
Disease Target Count Z-score Confidence
Dental caries 164 0.0 0.9

Expression

  Differential Expression (9)

Disease log2 FC p
Astrocytoma, Pilocytic 2.300 2.6e-07
colon cancer -2.900 2.0e-07
cystic fibrosis 1.690 5.9e-04
intraductal papillary-mucinous adenoma (... -1.400 8.9e-04
lung cancer -1.900 2.6e-04
malignant mesothelioma -5.700 1.7e-09
osteosarcoma -1.960 1.4e-03
pituitary cancer 2.000 9.1e-04
posterior fossa group B ependymoma 1.100 1.8e-02

Gene RIF (124)

AA Sequence

MAMLPPPGPQSFVHFTKQSLALIEQRIAERKSKEPKEEKKDDDEEAPKPSSDLEAGKQLPFIYGDIPPGM      1 - 70
VSEPLEDLDPYYADKKTFIVLNKGKTIFRFNATPALYMLSPFSPLRRISIKILVHSLFSMLIMCTILTNC     71 - 140
IFMTMNNPPDWTKNVEYTFTGIYTFESLVKILARGFCVGEFTFLRDPWNWLDFVVIVFAYLTEFVNLGNV    141 - 210
SALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLKHKCFRNSL    211 - 280
ENNETLESIMNTLESEEDFRKYFYYLEGSKDALLCGFSTDSGQCPEGYTCVKIGRNPDYGYTSFDTFSWA    281 - 350
FLALFRLMTQDYWENLYQQTLRAAGKTYMIFFVVVIFLGSFYLINLILAVVAMAYEEQNQANIEEAKQKE    351 - 420
LEFQQMLDRLKKEQEEAEAIAAAAAEYTSIRRSRIMGLSESSSETSKLSSKSAKERRNRRKKKNQKKLSS    421 - 490
GEEKGDAEKLSKSESEDSIRRKSFHLGVEGHRRAHEKRLSTPNQSPLSIRGSLFSARRSSRTSLFSFKGR    491 - 560
GRDIGSETEFADDEHSIFGDNESRRGSLFVPHRPQERRSSNISQASRSPPMLPVNGKMHSAVDCNGVVSL    561 - 630
VDGRSALMLPNGQLLPEVIIDKATSDDSGTTNQIHKKRRCSSYLLSEDMLNDPNLRQRAMSRASILTNTV    631 - 700
EELEESRQKCPPWWYRFAHKFLIWNCSPYWIKFKKCIYFIVMDPFVDLAITICIVLNTLFMAMEHHPMTE    701 - 770
EFKNVLAIGNLVFTGIFAAEMVLKLIAMDPYEYFQVGWNIFDSLIVTLSLVELFLADVEGLSVLRSFRLL    771 - 840
RVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINDDCTLPRWHM    841 - 910
NDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVYMMVMVIGNLVVLNLFLALLLSSFSSDNLTAIE    911 - 980
EDPDANNLQIAVTRIKKGINYVKQTLREFILKAFSKKPKISREIRQAEDLNTKKENYISNHTLAEMSKGH    981 - 1050
NFLKEKDKISGFGSSVDKHLMEDSDGQSFIHNPSLTVTVPIAPGESDLENMNAEELSSDSDSEYSKVRLN   1051 - 1120
RSSSSECSTVDNPLPGEGEEAEAEPMNSDEPEACFTDGCVWRFSCCQVNIESGKGKIWWNIRKTCYKIVE   1121 - 1190
HSWFESFIVLMILLSSGALAFEDIYIERKKTIKIILEYADKIFTYIFILEMLLKWIAYGYKTYFTNAWCW   1191 - 1260
LDFLIVDVSLVTLVANTLGYSDLGPIKSLRTLRALRPLRALSRFEGMRVVVNALIGAIPSIMNVLLVCLI   1261 - 1330
FWLIFSIMGVNLFAGKFYECINTTDGSRFPASQVPNRSECFALMNVSQNVRWKNLKVNFDNVGLGYLSLL   1331 - 1400
QVATFKGWTIIMYAAVDSVNVDKQPKYEYSLYMYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQ   1401 - 1470
DIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKIQGCIFDLVTNQAFDISIMVLICLNMVTMMVEKEGQS   1471 - 1540
QHMTEVLYWINVVFIILFTGECVLKLISLRHYYFTVGWNIFDFVVVIISIVGMFLADLIETYFVSPTLFR   1541 - 1610
VIRLARIGRILRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEDGINDMFN   1611 - 1680
FETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPKKVHPGSSVEGDCGNPSVGIFYFVSYIIISFLV   1681 - 1750
VVNMYIAVILENFSVATEESTEPLSEDDFEMFYEVWEKFDPDATQFIEFSKLSDFAAALDPPLLIAKPNK   1751 - 1820
VQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDSLRSQMEERFMSANPSKVSYEPITTTLKRKQED   1821 - 1890
VSATVIQRAYRRYRLRQNVKNISSIYIKDGDRDDDLLNKKDMAFDNVNENSSPEKTDATSSTTSPPSYDS   1891 - 1960
VTKPDKEKYEQDRTEKEDKGKDSKESKK                                             1961 - 1988
//

Text Mined References (140)

PMID Year Title