Property Summary

Ligand Count 130
NCBI Gene PubMed Count 426
PubMed Score 1210.80
PubTator Score 1317.37

Knowledge Summary

Patent (237,802)

TINX Plot

  Disease (9)

Disease Target Count
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Acquired cubitus valgus 18
Acquired scoliosis 281
Anomalous pulmonary artery 4
Aplasia/Hypoplasia of the abdominal wall musculature 17
Birthmark 35
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Broad flat nasal bridge 236
Bundle-Branch Block 8
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Class III malocclusion 78
Coagulation abnormalities 27
Coarse hair 31
Cognitive delay 608
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital anomaly of face 56
Congenital pectus carinatum 52
Cryptorchidism 296
Curly hair (finding) 14
Curvature of spine 282
Decreased fertility 33
Decreased projection of midface 105
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Distortion of face 46
Downward slant of palpebral fissure 158
Dry skin 75
Dysarthria 192
Dysmorphic facies 46
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Endocardial Cushion Defects 17
Enlarged thorax 18
Excess nuchal skin 30
Exophthalmos 112
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Freckles 33
Full lower lip 64
Funny looking face 46
Global developmental delay 608
Hemorrhagic Disorders 30
Hepatomegaly 285
High forehead 102
Hypertrophy of lower jaw 78
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Increased size of mandible 78
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint hyperflexibility 78
Kidney Neoplasm 29
LEFT VENTRICULAR NONCOMPACTION 10 40
LEFT VENTRICULAR NONCOMPACTION 8 40
Long narrow head 75
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Mammary Neoplasms 425
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Melanocytic nevus 43
Mental and motor retardation 608
Micrognathism 275
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Multiple lentigines 10
Muscle Weakness 170
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Neck webbing 35
Noncancerous mole 28
Orbital separation excessive 244
Pectus excavatum 100
Pilocytic astrocytoma 56
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Pulmonary Stenosis 45
Pulmonary artery stenosis 26
Rough hair texture 31
Scapular weakness 23
Senile lentigo 10
Severe sensorineural hearing impairment 5
Short neck 140
Short stature 531
Skin hyperelastic 32
Small midface 105
Sprengel deformity 16
Sternal anomalies 19
Strabismus 270
Tall forehead 102
Thickened helices 15
Triangular face 58
Turridolichocephaly 75
Wide spaced nipples 46
Winged scapula 23
Xerosis 75
facial deformity 46
malignant mesothelioma 3232
mandibular excess (physical finding) 78
non-small cell lung carcinoma 317
Disease Target Count P-value
ovarian cancer 8520 6.2e-16
group 3 medulloblastoma 4104 9.5e-04
ependymoma 4679 1.3e-03
oligodendroglioma 2850 1.5e-03
astrocytic glioma 2597 2.4e-03
Multiple myeloma 1332 7.5e-03
glioblastoma 5792 1.0e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Heart disease 306 0.0 1.9
Disease Target Count Z-score Confidence
Cancer 2499 4.976 2.5
Cardiomyopathy 116 0.0 4.0

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytic glioma 1.300 2.4e-03
ependymoma 1.400 1.3e-03
glioblastoma 1.400 1.0e-02
group 3 medulloblastoma 1.200 9.5e-04
Multiple myeloma 1.135 7.5e-03
oligodendroglioma 1.500 1.5e-03
ovarian cancer -1.900 6.2e-16

Protein-protein Interaction (3)

Gene RIF (241)

AA Sequence

MEHIQGAWKTISNGFGFKDAVFDGSSCISPTIVQQFGYQRRASDDGKLTDPSKTSNTIRVFLPNKQRTVV      1 - 70
NVRNGMSLHDCLMKALKVRGLQPECCAVFRLLHEHKGKKARLDWNTDAASLIGEELQVDFLDHVPLTTHN     71 - 140
FARKTFLKLAFCDICQKFLLNGFRCQTCGYKFHEHCSTKVPTMCVDWSNIRQLLLFPNSTIGDSGVPALP    141 - 210
SLTMRRMRESVSRMPVSSQHRYSTPHAFTFNTSSPSSEGSLSQRQRSTSTPNVHMVSTTLPVDSRMIEDA    211 - 280
IRSHSESASPSALSSSPNNLSPTGWSQPKTPVPAQRERAPVSGTQEKNKIRPRGQRDSSYYWEIEASEVM    281 - 350
LSTRIGSGSFGTVYKGKWHGDVAVKILKVVDPTPEQFQAFRNEVAVLRKTRHVNILLFMGYMTKDNLAIV    351 - 420
TQWCEGSSLYKHLHVQETKFQMFQLIDIARQTAQGMDYLHAKNIIHRDMKSNNIFLHEGLTVKIGDFGLA    421 - 490
TVKSRWSGSQQVEQPTGSVLWMAPEVIRMQDNNPFSFQSDVYSYGIVLYELMTGELPYSHINNRDQIIFM    491 - 560
VGRGYASPDLSKLYKNCPKAMKRLVADCVKKVKEERPLFPQILSSIELLQHSLPKINRSASEPSLHRAAH    561 - 630
TEDINACTLTTSPRLPVF                                                        631 - 648
//

Text Mined References (449)

PMID Year Title