Property Summary

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 70
Aggressive behavior 75
Aggressive reaction 75
Antithrombin III deficiency 14
Autosomal recessive predisposition 1407
Big calvaria 147
Brachycephaly 86
Broad cranium shape 86
Bushy eyebrows 48
Convex nasal bridge 56
Coxa valga 22
Coxa valga deformity 22
Diastema of Teeth 4
Downward slant of palpebral fissure 158
Epilepsy 775
Everted lower lip vermilion 54
Factor XI Deficiency 8
Factor XII Deficiency 8
Failure to gain weight 359
Flatfoot 71
Gait, Unsteady 29
Generalized hypotonia 37
Generalized osteopenia 94
Gingival Hyperplasia 31
Gingival Hypertrophy 31
Gingival Overgrowth 33
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 85
Large dysplastic ears 85
Large pinnae 85
Large prominent ears 85
Large protruding ears 85
Large, floppy ears 85
Long eyelashes 36
Low hanging columella 4
Macrodontia 2
Macrostomia 70
Macrotia 85
Midfrontal capillary hemangioma 1
Open mouth 44
Osteopenia 94
Pectus excavatum 100
Pediatric failure to thrive 359
Physical aggression 76
Posteriorly rotated ear 59
Postnatal growth retardation 56
Progressive mental retardation 37
Prominent nasal bridge 56
Protruding lower lip 54
Protrusion of tongue 11
Proximally placed thumbs 16
Reduced factor IX activity 2
Retrognathia 53
Rounded columella 4
Seizures 584
Self Mutilation 14
Sensorineural Hearing Loss (disorder) 281
Severe mental retardation (I.Q. 20-34) 97
Short neck 139
Short stature 514
Slender, gracile long tubular bones 21
Small head 366
Spontaneous abortion 97
Stereotyped Behavior 36
Stereotypic Movement Disorder 41
Tall stature 33
Thin lips 49
Thoracolumbar kyphoscoliosis 2
Ventricular Septal Defects 113
Wide skull shape 86
Disease Target Count Z-score Confidence
Carcinoma 11192 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