Property Summary

Ligand Count 12
NCBI Gene PubMed Count 67
PubMed Score 41.12
PubTator Score 84.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 21
Abnormal skeletal development 60
Abnormality of the metacarpal bones 17
Abnormality of the metaphyses 48
Anteverted nostril 191
Bicuspid aortic valve 16
Big calvaria 147
Blepharophimosis 70
Bowed and upward slanting eyebrows 41
Broad first metatarsal 1
Broad flat nasal bridge 236
Broad hallux 29
Broad hallux phalanx 8
Broad ribs 12
Bulbous nasal tip 48
Bulbous nose 48
Bulging forehead 66
Bullet vertebral body 17
Bushy eyebrows 49
Cardiomegaly 116
Cardiomyopathy, Dilated 83
Coarse facial features 108
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital hypertrophy of left ventricle 1
Coxa valga 22
Coxa valga deformity 22
Craniofacial hyperostosis 11
Cuboid-shaped vertebral bodies 2
Curly eyelashes 6
Deep plantar creases 5
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive Symptoms 28
Diffusely thickened skin 20
Edema of eyelid 10
Enlargement of craniofacial bones 11
Erlenmeyer flask femora 4
Everted lower lip vermilion 54
Fissured tongue 25
Full lower lip 64
Generalized hirsutism 36
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
HYPERTRICHOSIS, CONGENITAL GENERALIZED 2
Hand deformities 32
Hyperplasia of hypophysial fossa 1
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of craniofacial bones 11
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypoplastic ischiopubic rami 1
Hypoplastic mandible condyle 275
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Joint hyperflexibility 78
LEFT VENTRICULAR NONCOMPACTION 10 40
LEFT VENTRICULAR NONCOMPACTION 8 40
Large for gestational age 11
Large hand 18
Large hypophysial fossa 1
Large sella turcica 1
Long eyelashes 37
Long nose 15
Long philtrum 137
Low anterior hairline 30
Low posterior hairline 52
Lymphatic obstruction 21
Lymphedema 42
Macroglossia 65
Macrostomia 72
Mandibular hypoplasia 275
Metaphyseal widening 22
Micrognathism 275
Mild Mental Retardation 70
Narrow thorax 53
Nasal bridge wide 236
Onset of lymphedema around puberty 21
Orbital separation excessive 244
Osteochondrodysplasias 72
Osteoporosis 363
Ovoid vertebral bodies 17
Pachyderma 20
Paroxysmal atrial fibrillation 14
Patent ductus arteriosus 90
Pericardial effusion 14
Platyspondyly 56
Potato nose 48
Prominent forehead 66
Prominent lower lip 64
Prominent supraorbital ridges 19
Protruding lower lip 54
Short distal phalanges 50
Short hallux 16
Short neck 140
Sloping forehead 46
Synophrys 40
Thick craniofacial bones 11
Thick nasal alae 5
Thick upper lip vermilion 4
Thick vermilion border 25
Thick, flared eyebrows 41
Thickened facial skin with coarse facial features 108
Umbilical hernia 93
Widened posterior fossa 1
Disease Target Count
Alopecia 115
Hypertensive disorder 57
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0
Familial atrial fibrillation 23 0.0 4.0

Expression

  Differential Expression (13)

Disease log2 FC p
atypical teratoid/rhabdoid tumor 1.400 4.1e-03
colon cancer -1.300 5.2e-03
ductal carcinoma in situ -1.400 3.0e-03
ependymoma 1.900 5.9e-03
Gaucher disease type 3 -2.400 2.7e-02
invasive ductal carcinoma -1.400 1.8e-02
lung adenocarcinoma -1.500 2.1e-12
lung cancer -2.200 7.6e-05
lung carcinoma -1.200 9.7e-09
non primary Sjogren syndrome sicca -1.400 1.9e-02
non-small cell lung carcinoma -1.400 1.8e-24
ovarian cancer -2.200 8.1e-07
pancreatic ductal adenocarcinoma liver m... -1.104 1.1e-03

Gene RIF (37)

AA Sequence

MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHN      1 - 70
LRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLY     71 - 140
WVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQD    141 - 210
LGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPN    211 - 280
RTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLEN    281 - 350
AYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIE    351 - 420
TNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTE    421 - 490
RLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAY    491 - 560
ASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFES    561 - 630
CKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQL    631 - 700
TMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENI    701 - 770
TFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFS    771 - 840
ALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHW    841 - 910
KTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWK    911 - 980
TCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLC    981 - 1050
LVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLL   1051 - 1120
CLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRH   1121 - 1190
ETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITN   1191 - 1260
YLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLK   1261 - 1330
HVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFS   1331 - 1400
GSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSIL   1401 - 1470
IMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGL   1471 - 1540
FSTLVMTNK                                                                1541 - 1549
//

Text Mined References (67)

PMID Year Title