Property Summary

Ligand Count 46
NCBI Gene PubMed Count 20
PubMed Score 32.73
PubTator Score 33.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal isoelectric focusing of serum transferrin (type 2 pattern) 1
Abnormality of the rib cage 12
Acquired flat foot 72
Aggressive behavior 75
Aggressive reaction 75
Antithrombin III deficiency 14
Autosomal recessive predisposition 1442
Big calvaria 147
Brachycephaly 88
Broad cranium shape 88
Bushy eyebrows 49
Convex nasal bridge 57
Coxa valga 22
Coxa valga deformity 22
Diastema of Teeth 4
Downward slant of palpebral fissure 158
Epilepsy 792
Everted lower lip vermilion 54
Factor XI Deficiency 12
Factor XII deficiency 13
Failure to gain weight 365
Flatfoot 73
Gait, Unsteady 29
Generalized hypotonia 37
Generalized osteopenia 99
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Hyperplasia of tooth 2
Hypertrophy of tooth 2
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Increased size of tooth 2
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long eyelashes 37
Low hanging columella 4
Macrodontia 2
Macrostomia 72
Macrotia 87
Midfrontal capillary hemangioma 1
Open mouth 45
Osteopenia 99
Pectus excavatum 100
Pediatric failure to thrive 365
Physical aggression 76
Posteriorly rotated ear 61
Postnatal growth retardation 57
Progressive mental retardation 37
Prominent nasal bridge 57
Protruding lower lip 54
Protrusion of tongue 11
Proximally placed thumbs 17
Reduced factor IX activity 3
Retrognathia 54
Rounded columella 4
Seizures 596
Self Mutilation 14
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Short neck 140
Short stature 531
Slender, gracile long tubular bones 21
Small head 374
Spontaneous abortion 113
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Tall stature 34
Thin lips 49
Thoracolumbar kyphoscoliosis 2
Ventricular Septal Defects 119
Wide skull shape 88
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Congenital disorder of glycosylation 54 5.203 2.6
Disease Target Count Z-score Confidence
Congenital dyserythropoietic anemia 18 3.468 1.7

Expression

  Differential Expression (15)

Disease log2 FC p
acute quadriplegic myopathy 1.211 2.3e-06
Astrocytoma, Pilocytic 1.100 7.5e-04
gastric cancer 1.200 2.0e-03
glioblastoma 1.100 1.3e-02
group 3 medulloblastoma 1.300 1.3e-04
hepatocellular carcinoma 1.700 3.1e-06
juvenile dermatomyositis 1.239 1.2e-09
Multiple myeloma 1.075 1.5e-02
non primary Sjogren syndrome sicca 1.200 2.0e-02
ovarian cancer -2.100 7.0e-08
pancreatic cancer 1.600 4.8e-03
pancreatic carcinoma 1.600 4.8e-03
pancreatic ductal adenocarcinoma liver m... -1.227 3.2e-03
tuberculosis -1.100 1.8e-04
Waldenstrons macroglobulinemia 1.257 4.7e-02

Gene RIF (25)

AA Sequence

MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSVAVGIRRVSNV      1 - 70
SAASLVPAVPQPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVLVVQVHNRPEYLRLLLDSLRK     71 - 140
AQGIDNVLVIFSHDFWSTEINQLIAGVNFCPVLQVFFPFSIQLYPNEFPGSDPRDCPRDLPKNAALKLGC    141 - 210
INAEYPDSFGHYREAKFSQTKHHWWWKLHFVWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQ    211 - 280
QECPECDVLSLGTYSASRSFYGMADKVDVKTWKSTEHNMGLALTRNAYQKLIECTDTFCTYDDYNWDWTL    281 - 350
QYLTVSCLPKFWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLNNNKQYMFPETLTISEKFTVV    351 - 420
AISPPRKNGGWGDIRDHELCKSYRRLQ                                               421 - 447
//

Text Mined References (19)

PMID Year Title