Property Summary

NCBI Gene PubMed Count 33
PubMed Score 163.14
PubTator Score 32.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Liver Cirrhosis, Experimental 769 0.0 0.0
NOONAN SYNDROME 8 1 0.0 0.0
Disease Target Count
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Acquired scoliosis 281
Aplasia/Hypoplasia of the abdominal wall musculature 17
Atrial Septal Defects 85
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Byzanthine arch palate 194
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Coagulation abnormalities 27
Coarse hair 31
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital pectus carinatum 52
Cryptorchidism 296
Curly hair (finding) 14
Curvature of spine 282
Decreased projection of midface 105
Delayed bone age 136
Downward slant of palpebral fissure 158
Dysarthria 192
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enlarged thorax 18
Excess nuchal skin 30
Exophthalmos 112
Failure to gain weight 365
Feeding difficulties in infancy 175
Full lower lip 64
Hemorrhagic Disorders 30
Hepatomegaly 285
High forehead 102
Hyperkeratosis 50
Hypertrophic Cardiomyopathy 117
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Joint hyperflexibility 78
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Mandibular hypoplasia 275
Micrognathism 275
Midface retrusion 105
Muscle Weakness 170
Muscle hypotonia 571
Neck webbing 35
Orbital separation excessive 244
Pectus excavatum 100
Pediatric failure to thrive 365
Polyhydramnios 108
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Pulmonary Stenosis 45
Pulmonary artery stenosis 22
Relative macrocephaly 12
Rough hair texture 31
Short neck 140
Short stature 531
Skin hyperelastic 32
Small midface 105
Strabismus 270
Tall forehead 102
Thickened helices 15
Triangular face 58
Ventricular Septal Defects 119
Wide spaced nipples 46
Disease Target Count Z-score Confidence
Attention deficit hyperactivity disorder 278 0.0 0.9
Crohn's disease 321 0.0 3.0
Disease Target Count Z-score Confidence
lung cancer 4740 0.0 5.0
Disease Target Count
Noonan syndrome 34

Expression

  Differential Expression (22)

Disease log2 FC p
acute myeloid leukemia 1.800 1.1e-02
astrocytoma 1.100 3.9e-14
Astrocytoma, Pilocytic 1.100 8.4e-03
atypical teratoid / rhabdoid tumor 1.100 1.1e-03
Breast cancer 2.400 2.7e-02
ependymoma 1.300 3.6e-09
esophageal adenocarcinoma -1.500 2.5e-02
glioblastoma 1.400 1.0e-05
group 3 medulloblastoma 1.100 2.1e-03
interstitial lung disease -1.600 1.4e-02
intraductal papillary-mucinous adenoma (... 1.500 1.0e-02
intraductal papillary-mucinous neoplasm ... 1.900 2.6e-02
invasive ductal carcinoma 1.500 4.3e-03
lung adenocarcinoma 1.090 2.1e-03
medulloblastoma, large-cell -1.400 3.9e-03
non-small cell lung cancer 1.276 1.1e-12
ovarian cancer 1.400 1.9e-03
pediatric high grade glioma 1.500 3.6e-06
primary Sjogren syndrome 1.100 4.2e-03
primitive neuroectodermal tumor 1.300 2.3e-03
psoriasis 1.200 1.6e-07
subependymal giant cell astrocytoma 2.238 6.2e-03

 MGI Phenotype (1)

Protein-protein Interaction (4)

Gene RIF (24)

AA Sequence

MDSGTRPVGSCCSSPAGLSREYKLVMLGAGGVGKSAMTMQFISHRFPEDHDPTIEDAYKIRIRIDDEPAN      1 - 70
LDILDTAGQAEFTAMRDQYMRAGEGFIICYSITDRRSFHEVREFKQLIYRVRRTDDTPVVLVGNKSDLKQ     71 - 140
LRQVTKEEGLALAREFSCPFFETSAAYRYYIDDVFHALVREIRRKEKEAVLAMEKKSKPKNSVWKRLKSP    141 - 210
FRKKKDSVT                                                                 211 - 219
//

Text Mined References (35)

PMID Year Title