Property Summary

NCBI Gene PubMed Count 33
PubMed Score 35.95
PubTator Score 21.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
NOONAN SYNDROME 9 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
Aortic coarctation 30
Aplasia/Hypoplasia of the abdominal wall musculature 17
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 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
Feeding difficulties in infancy 175
Full lower lip 64
Heart Septal Defects 24
Hemorrhagic Disorders 30
Hepatomegaly 285
High forehead 102
Hyperkeratosis pilaris 2
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Joint hyperflexibility 78
Low posterior hairline 52
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
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Pulmonary Stenosis 45
Pulmonary artery stenosis 26
Rough hair texture 31
Short neck 140
Short stature 531
Small midface 105
Sparse eyebrow 42
Strabismus 270
Tall forehead 102
Thickened helices 15
Triangular face 58
Wide spaced nipples 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.6
lung cancer 4740 0.0 0.6
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 2.2
Disease Target Count Z-score Confidence
Gingival fibromatosis 14 4.864 2.4
Disease Target Count
Noonan syndrome 34

Expression

  Differential Expression (14)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 9.3e-06
cutaneous lupus erythematosus -1.100 1.7e-02
dermatomyositis -1.600 5.2e-04
ependymoma 1.100 2.2e-04
Gaucher disease type 1 -1.400 1.6e-02
glioblastoma 1.100 2.3e-02
group 4 medulloblastoma 2.000 1.5e-04
hereditary spastic paraplegia -1.081 9.4e-03
Multiple myeloma 1.034 1.1e-02
osteosarcoma 2.197 1.1e-05
ovarian cancer -1.600 1.8e-06
psoriasis -1.200 6.6e-04
Rheumatoid arthritis 1.100 2.1e-02
ulcerative colitis -1.100 2.2e-03

 MGI Phenotype (1)

Gene RIF (8)

AA Sequence

MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQDV      1 - 70
EERVQKTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISAD     71 - 140
ILKLAGNYVFNIRHYEISQQDIKVSMCADKVLMDMFDQDDIGLVSLCEDEPSSSGELNYYDLVRTEIAEE    141 - 210
RQYLRELNMIIKVFREAFLSDRKLFKPSDIEKIFSNISDIHELTVKLLGLIEDTVEMTDESSPHPLAGSC    211 - 280
FEDLAEEQAFDPYETLSQDILSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLPRLMLVPVYHCWH    281 - 350
YFELLKQLKACSEEQEDRECLNQAITALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKM    351 - 420
NEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPGYSSAEYRLKE    421 - 490
KFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEE    491 - 560
NEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIKGGTVVKLIERLTYHMYADPNFVRTFLTTYR    561 - 630
SFCKPQELLSLLIERFEIPEPEPTDADKLAIEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFY    631 - 700
DFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFE    701 - 770
TFDLMTLHPIEIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIVEA    771 - 840
ENFEERVAVLSRIIEILQVFQDLNNFNGVLEIVSAVNSVSVYRLDHTFEALQERKRKILDEAVELSQDHF    841 - 910
KKYLVKLKSINPPCVPFFGIYLTNILKTEEGNNDFLKKKGKDLINFSKRRKVAEITGEIQQYQNQPYCLR    911 - 980
IEPDMRRFFENLNPMGSASEKEFTDYLFNKSLEIEPRNCKQPPRFPRKSTFSLKSPGIRPNTGRHGSTSG    981 - 1050
TLRGHPTPLEREPCKISFSRIAETELESTVSAPTSPNTPSTPPVSASSDLSVFLDVDLNSSCGSNSIFAP   1051 - 1120
VLLPHSKSFFSSCGSLHKLSEEPLIPPPLPPRKKFDHDASNSKGNMKSDDDPPAIPPRQPPPPKVKPRVP   1121 - 1190
VPTGAFDGPLHSPPPPPPRDPLPDTPPPVPLRPPEHFINCPFNLQPPPLGHLHRDSDWLRDISTCPNSPS   1191 - 1260
TPPSTPSPRVPRRCYVLSSSQNNLAHPPAPPVPPRQNSSPHLPKLPPKTYKRELSHPPLYRLPLLENAET   1261 - 1330
PQ                                                                       1331 - 1332
//

Text Mined References (35)

PMID Year Title