Property Summary

Ligand Count 106
NCBI Gene PubMed Count 141
PubMed Score 325.41
PubTator Score 163.26

Knowledge Summary

Patent (52,461)

TINX Plot

  Disease (5)

Disease Target Count
Intellectual disability 1016
'Drumstick' terminal phalanges 1
Abnormal diaphysis morphology 5
Abnormally-shaped vertebrae 31
Accessory proximal metacarpal ossification centers 7
Acquired flat foot 72
Acquired scoliosis 281
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteverted nostril 191
Bowed and upward slanting eyebrows 41
Brachydactyly 156
Broad fingers 3
Broad nasal tip 28
Bulging forehead 66
Bushy eyebrows 49
Byzanthine arch palate 194
Class III malocclusion 78
Coarse facial features 108
Coarse hair 31
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital pectus carinatum 52
Coxa valga 22
Coxa valga deformity 22
Craniofacial hyperostosis 11
Curvature of spine 282
Cutis Laxa 39
Cutis marmorata 32
Decreased projection of maxilla 66
Deficiency of upper jaw bones 66
Delayed bone age 136
Delayed closure of the soft spot on the skull 11
Delayed speech and language development 112
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Enlargement of craniofacial bones 11
Epilepsy 792
Everted lower lip vermilion 54
Feeding difficulties in infancy 175
Flatfoot 73
Frontal bossing 157
Full lower lip 64
Gait abnormality 135
Generalized elastolysis 24
Global developmental delay, severe 47
Hanging skin 24
Hernia, Inguinal 89
Hyperconvex fingernails 7
Hyperextensible digits 7
Hyperkyphosis 111
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of craniofacial bones 11
Hypertrophy of lower jaw 78
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypodontia 81
Hypoplasia of the maxilla 66
Hypoplastic fingernails 11
Hypotrophic maxilla 66
Inadequate arch length for tooth size 45
Increased size of mandible 78
Increased thickness of cranium 17
Isolated cases 72
Joint hyperflexibility 78
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Language Delay 112
Large hand 18
Late closure of anterior fontanel 11
Liver carcinoma 240
Long foot 8
Low intelligence 645
Lumbar gibbus deformity 1
Macrostomia 72
Malocclusion 57
Mandibular hyperplasia 78
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Motor delay 147
Muscle hypotonia 571
Narrow iliac wings 7
Narrow palate 20
No development of motor milestones 147
Open mouth 45
Orbital separation excessive 244
Pectus excavatum 100
Poor school performance 645
Progressive spasticity 6
Prominent ear 56
Prominent forehead 66
Prominent lower lip 64
Prominent supraorbital ridges 19
Protruding ears 56
Protruding lower lip 54
Rectal prolapse 19
Redundant skin 28
Retrusion of upper jaw bones 66
Rough hair texture 31
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short distal phalanges 50
Short metacarpal 43
Short stature 531
Single transverse palmar crease 29
Small head 374
Spade-like hand 16
Speech Delay 112
Speech Disorders 58
Speech impairment 112
Sternum bifidum 1
Tapering fingers (finding) 25
Telecanthus 62
Thick craniofacial bones 11
Thick nasal alae 5
Thick nasal septum 1
Thick, flared eyebrows 41
Thickened calvaria 17
Thickened facial skin with coarse facial features 108
Tooth Abnormalities 69
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Underweight 17
Uterine Prolapse 3
Weight decreased 103
Weight less than 3rd percentile 17
Wide nose 35
Widely spaced teeth 31
X-linked dominant 57
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6
Liver cancer 604 0.0 0.8
Disease Target Count Z-score Confidence
Cancer 2499 4.145 2.1
Partington syndrome 9 3.63 1.8
Hemorrhoid 3 3.067 1.5

Expression

  Differential Expression (9)

Disease log2 FC p
Breast cancer -1.200 2.2e-06
group 4 medulloblastoma -1.200 1.9e-03
intraductal papillary-mucinous adenoma (... 1.200 2.5e-02
medulloblastoma, large-cell -1.300 1.7e-05
osteosarcoma 1.401 7.8e-03
ovarian cancer -2.300 1.5e-06
pancreatic cancer 1.200 3.1e-03
pancreatic ductal adenocarcinoma liver m... -1.551 1.1e-02
psoriasis 1.200 1.1e-03

PDB (10)

Gene RIF (71)

AA Sequence

MPLAQLADPWQKMAVESPSDSAENGQQIMDEPMGEEEINPQTEEVSIKEIAITHHVKEGHEKADPSQFEL      1 - 70
LKVLGQGSFGKVFLVKKISGSDARQLYAMKVLKKATLKVRDRVRTKMERDILVEVNHPFIVKLHYAFQTE     71 - 140
GKLYLILDFLRGGDLFTRLSKEVMFTEEDVKFYLAELALALDHLHSLGIIYRDLKPENILLDEEGHIKLT    141 - 210
DFGLSKESIDHEKKAYSFCGTVEYMAPEVVNRRGHTQSADWWSFGVLMFEMLTGTLPFQGKDRKETMTMI    211 - 280
LKAKLGMPQFLSPEAQSLLRMLFKRNPANRLGAGPDGVEEIKRHSFFSTIDWNKLYRREIHPPFKPATGR    281 - 350
PEDTFYFDPEFTAKTPKDSPGIPPSANAHQLFRGFSFVAITSDDESQAMQTVGVHSIVQQLHRNSIQFTD    351 - 420
GYEVKEDIGVGSYSVCKRCIHKATNMEFAVKIIDKSKRDPTEEIEILLRYGQHPNIITLKDVYDDGKYVY    421 - 490
VVTELMKGGELLDKILRQKFFSEREASAVLFTITKTVEYLHAQGVVHRDLKPSNILYVDESGNPESIRIC    491 - 560
DFGFAKQLRAENGLLMTPCYTANFVAPEVLKRQGYDAACDIWSLGVLLYTMLTGYTPFANGPDDTPEEIL    561 - 630
ARIGSGKFSLSGGYWNSVSDTAKDLVSKMLHVDPHQRLTAALVLRHPWIVHWDQLPQYQLNRQDAPHLVK    631 - 700
GAMAATYSALNRNQSPVLEPVGRSTLAQRRGIKKITSTAL                                  701 - 740
//

Text Mined References (156)

PMID Year Title