Property Summary

Ligand Count 19
NCBI Gene PubMed Count 312
PubMed Score 458.36
PubTator Score 721.71

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Dementia 175
Abnormal visual evoked potential 26
Abnormality of the metaphyses 48
Abnormality of the musculature 16
Abnormality of the rib cage 12
Abnormality of the thorax 19
Acquired scoliosis 281
Adult onset 82
Amaurosis Fugax 8
Aphasia 26
Arachnoid Cysts 5
Arnold-Chiari Malformation, Type I 5
Biconcave vertebral bodies 9
Blepharoptosis 231
Bone Cysts 12
Brain Ischemia 110
Byzanthine arch palate 194
CADASIL Syndrome 1
Calcium pyrophosphate deposition disease 13
Cerebral Ischemia 37
Cerebral atrophy 178
Cerebrovascular accident 63
Coarse hair 31
Comatose 56
Conductive hearing loss 123
Confusion 21
Cranial nerve palsies 11
Creatine phosphokinase serum increased 110
Cryptorchidism 296
Curvature of spine 282
Decreased pain sensation 17
Depressive disorder 409
Dermatologic disorders 93
Developmental regression 95
Downward slant of palpebral fissure 158
Dural ectasia 4
Electroencephalogram abnormal 101
Electroretinogram abnormal 95
Elevated creatine kinase 110
Epilepsy 792
Fever 138
Fibromatosis, Gingival 8
Forgetful 40
Fused vertebrae 25
Gait abnormality 135
Hair shaft abnormalities 30
Hemiplegia 25
Hereditary gingival fibromatosis 8
Hernia, Inguinal 89
HyperCalcification of skull base 5
HyperMineralization of skull base 5
Hyperkyphosis 111
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Idiopathic gingival hyperplasia 8
Inadequate arch length for tooth size 45
Intermittent migraine headaches 68
Kyphosis deformity of spine 114
Lateral meningocele 1
Leukoencephalopathies 29
Long narrow head 75
Long philtrum 137
Loss of developmental milestones 95
Low Vision 174
Low set ears 181
MYOFIBROMATOSIS, INFANTILE, 2 1
Malar flattening 129
Malformed ossicles 3
Malignant neoplasm of skin 15
Mammary Neoplasms 425
Mandibular hypoplasia 275
Memory Loss 40
Memory impairment 40
Meningocele 11
Mental deterioration in childhood 95
Micrognathism 275
Migraine Disorders 76
Motor delay 147
Multiple, subcutaneous nodules 53
Muscle Spasticity 195
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Neurodevelopmental regression 95
No development of motor milestones 147
Nonarteritic anterior ischemic optic neuropathy (NAION) 1
Orbital separation excessive 244
Patent ductus arteriosus 90
Pectus excavatum 100
Platybasia 13
Posteriorly rotated ear 61
Pseudobulbar palsy 11
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Range of joint movement increased 32
Recurrent subcortical infarcts 1
Retinal arteriolar tortuosity 2
Rough hair texture 31
Sclerosis of skull base 5
Seizures 596
Sensory neuropathy 20
Short nasal bridge 2
Short neck 140
Short stature 531
Skin Abnormalities 37
Skull malformation 38
Smooth philtrum 43
Spinal fusion 25
Squamous cell carcinoma of esophagus 77
Structure of wormian bone 24
Subcortical dementia 1
Subcutaneous nodule 53
Syringomyelia 15
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Turridolichocephaly 75
Umbilical hernia 93
Urinary Incontinence 50
Varicosity 12
Vertebral body fusion 25
Visual Impairment 174
hair abnormalities (non-specific) 30
non-small cell lung carcinoma 317
Disease Target Count
Infantile myofibromatosis 8

Expression

  Differential Expression (13)

Disease log2 FC p
lung cancer 1.100 3.4e-04
glioblastoma 2.000 3.4e-05
Alzheimer's disease 1.100 4.3e-02
atypical teratoid / rhabdoid tumor 2.800 4.4e-09
cystic fibrosis -3.424 4.5e-08
gastric carcinoma 1.900 6.2e-03
malignant mesothelioma 3.800 8.6e-09
non-small cell lung cancer 1.181 1.1e-10
pancreatic cancer 1.200 5.6e-03
pediatric high grade glioma 1.400 5.6e-05
primary pancreatic ductal adenocarcinoma 1.410 5.9e-03
primitive neuroectodermal tumor 1.200 2.9e-04
psoriasis -3.400 4.3e-06

Protein-protein Interaction (4)

Gene RIF (291)

AA Sequence

MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPSREAACLCPPG      1 - 70
WVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDG     71 - 140
RFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENPAVPCAPSPCRNGG    141 - 210
TCRQSGDLTYDCACLPGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQL    211 - 280
QPNACHNGGTCFNTLGGHSCVCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCH    281 - 350
LDDACVSNPCHEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCG    351 - 420
RGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVNGGVCKDRVNG    421 - 490
FSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGTLCDRNVDDCSPDPCHHGRCV    491 - 560
DGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVNIDDCASNPCT    561 - 630
FGVCRDGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCA    631 - 700
HEPCSHGICYDAPGGFRCVCEPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCE    701 - 770
LLSPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGG    771 - 840
YTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGTCTDHVASFTC    841 - 910
TCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCLHGGVCSAA    911 - 980
HPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIRSLPCREAAAQIGVR    981 - 1050
LEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCE   1051 - 1120
DDVDECASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFR   1121 - 1190
CTCPPGYTGLRCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ   1191 - 1260
CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSFPGS   1261 - 1330
PPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPEVSEEPRCPRAACQAKRGDQR   1331 - 1400
CDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNSRCDPACSSPACLYDNFDCHAGGRERTCNPV   1401 - 1470
YEKYCADHFADGRCDQGCNTEECGWDGLDCASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILR   1471 - 1540
TSLRFRLDAHGQAMVFPYHRPSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADY   1541 - 1610
LGALSAVERLDFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGF   1611 - 1680
SLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMGAEEAVDCRQW   1681 - 1750
TQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCGGALEPMPTEEDEADDTSASI   1751 - 1820
ISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLDAGADTNAQDHSGRTPLHTAVTADAQGVFQI   1821 - 1890
LIRNRSTDLDARMADGSTALILAARLAVEGMVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLK   1891 - 1960
NGANKDMQDSKEETPLFLAAREGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGP   1961 - 2030
RSPPGPHGLGPLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS   2031 - 2100
PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSLGLLNPVAVPL   2101 - 2170
DWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEEYPAAGAHSSPPKARFLRVPS   2171 - 2240
EHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAMATTTGALPAQPLPLSVPSSLAQAQTQLGPQ   2241 - 2310
PEVTPKRQVLA                                                              2311 - 2321
//

Text Mined References (328)

PMID Year Title