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 733 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 274
Aplasia/Hypoplasia of the abdominal wall musculature 17
Atrial Septal Defects 81
Bleeding tendency 35
Blepharoptosis 229
Blood Coagulation Disorders 41
Byzanthine arch palate 194
Cardiac Arrhythmia 101
Cardiac conduction abnormalities 78
Coagulation abnormalities 27
Coarse hair 31
Conduction disorder of the heart 79
Congenital Epicanthus 175
Congenital pectus carinatum 51
Cryptorchidism 287
Curly hair (finding) 14
Curvature of spine 275
Decreased projection of midface 104
Delayed bone age 132
Downward slant of palpebral fissure 158
Dysarthria 190
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enlarged thorax 18
Excess nuchal skin 30
Exophthalmos 110
Failure to gain weight 359
Feeding difficulties in infancy 174
Full lower lip 61
Hemorrhagic Disorders 29
Hepatomegaly 280
High forehead 101
Hyperkeratosis 50
Hypertrophic Cardiomyopathy 115
Hypogonadism, Isolated Hypogonadotropic 64
Hypogonadotropic hypogonadism 82
Hypoplastic mandible condyle 273
Hypotrophic midface 104
Joint hyperflexibility 76
Low posterior hairline 52
Low set ears 178
Low-set, posteriorly rotated ears 109
Lymphangioma, Cystic 21
Mandibular hypoplasia 273
Micrognathism 273
Midface retrusion 104
Muscle Weakness 168
Muscle hypotonia 562
Neck webbing 35
Orbital separation excessive 240
Pectus excavatum 100
Pediatric failure to thrive 359
Polyhydramnios 106
Prominent eyes 95
Prominent globes 95
Prominent lower lip 61
Protruding eyes 95
Pulmonary Stenosis 44
Pulmonary artery stenosis 26
Relative macrocephaly 12
Rough hair texture 31
Short neck 139
Short stature 514
Skin hyperelastic 32
Small midface 104
Strabismus 265
Tall forehead 101
Thickened helices 15
Triangular face 57
Ventricular Septal Defects 113
Wide spaced nipples 46
Disease Target Count Z-score Confidence
Attention deficit hyperactivity disorder 272 0.0 0.9
Crohn's disease 311 0.0 3.0
Disease Target Count Z-score Confidence
lung cancer 4607 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