Property Summary

Ligand Count 23
NCBI Gene PubMed Count 575
PubMed Score 1400.01
PubTator Score 958.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Hypertrophic Cardiomyopathy 117
Cryptorchidism 296
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
Absence of rib 7
Acquired cubitus valgus 18
Acquired scoliosis 281
Amegakaryocytic thrombocytopenia 6
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anomalous pulmonary artery 4
Aortic coarctation 30
Aplasia/Hypoplasia of the abdominal wall musculature 17
Arthropathy 43
Atrial Septal Defects 85
Birthmark 35
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Bowing of the long bones 31
Brachydactyly 156
Broad chest 8
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
Cardio-facio-cutaneous syndrome 6
Cartilaginous exostosis 2
Class III malocclusion 78
Cleft Palate 271
Coagulation abnormalities 27
Coarse hair 31
Complete atrioventricular block 3
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital absence of ovary 1
Congenital clinodactyly 57
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Congenital pectus carinatum 52
Costello syndrome (disorder) 6
Curvature of digit 57
Curvature of spine 282
Decreased fertility 33
Decreased projection of midface 105
Delayed Puberty 97
Delayed bone age 136
Delayed menarche 3
Depressed nasal ridge 51
Downward slant of palpebral fissure 158
Dysarthria 192
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Endocardial Cushion Defects 17
Enlarged thorax 18
Excess nuchal skin 30
Exophthalmos 112
Factor XII deficiency 13
Failure to thrive in infancy 32
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Freckles 33
Full lower lip 64
Hemorrhagic Disorders 30
Hepatomegaly 285
Hereditary multiple exostoses 3
High forehead 102
High, narrow palate 32
Hypertrophy of lower jaw 78
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Hypoplastic ovary 30
Hypotrophic midface 105
Increased size of mandible 78
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint hyperflexibility 78
Kyphoscoliosis deformity of spine 60
Limited elbow movement 6
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Lymphatic obstruction 21
Lymphedema 42
Male infertility 206
Malignant peripheral nerve sheath tumor 12
Malocclusion 57
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Melanocytic nevus 43
Micrognathism 275
Midface retrusion 105
Mild Mental Retardation 70
Mitral Valve Prolapse Syndrome 39
Multiple digital exostoses 1
Multiple lentigines 10
Muscle Weakness 170
Muscle hypotonia 571
Myopia 176
Nasal bridge wide 236
Neck webbing 35
Neurofibrosarcoma 7
Noncancerous mole 28
Onset of lymphedema around puberty 21
Orbital separation excessive 244
Parietal bossing 5
Patent ductus arteriosus 90
Pectus carinatum superiorly 4
Pectus excavatum 100
Pectus excavatum inferiorly 5
Penile hypospadias 106
Posteriorly rotated ear 61
Postnatal growth retardation 57
Prominent ear 56
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding ears 56
Protruding eyes 96
Pulmonary Stenosis 45
Pulmonary artery stenosis 22
Radially deviated fingers 38
Reduced factor XIII activity 5
Rough hair texture 31
Scapular weakness 23
Senile lentigo 10
Sense of smell impaired 21
Sensorineural Hearing Loss (disorder) 284
Severe sensorineural hearing impairment 5
Shield chest 8
Short neck 140
Short stature 531
Skin hyperelastic 32
Small midface 105
Somatic mutation 61
Spina bifida occulta 19
Sprengel deformity 16
Squamous cell carcinoma 129
Strabismus 270
Subaortic stenosis 9
Synovitis 78
Tall forehead 102
Thickened helices 15
Triangular face 58
Unilateral agenesis of kidney 20
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Wide spaced nipples 46
Winged scapula 23
joint abnormality 5
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Celiac disease 116 0.0 2.5
Hemolytic anemia 77 0.0 3.0

Expression

  Differential Expression (18)

Disease log2 FC p
adult high grade glioma -1.500 3.3e-03
astrocytic glioma 1.400 6.4e-03
breast carcinoma -1.100 8.3e-05
dermatomyositis -1.100 5.9e-03
Down syndrome 1.200 2.3e-03
ependymoma 1.500 1.8e-03
Gaucher disease type 1 -1.300 1.3e-02
glioblastoma 1.200 2.9e-02
group 4 medulloblastoma 1.100 2.5e-03
hereditary spastic paraplegia -1.152 3.0e-03
lung adenocarcinoma -1.500 3.5e-17
medulloblastoma, large-cell 1.200 1.2e-02
Multiple myeloma 1.196 2.5e-02
oligodendroglioma 1.100 1.2e-03
osteosarcoma 2.945 7.0e-08
pancreatic ductal adenocarcinoma liver m... -1.691 2.0e-02
Pick disease -1.100 1.1e-03
progressive supranuclear palsy -1.400 3.7e-03

Protein-protein Interaction (2)

PDB (36)

Gene RIF (388)

AA Sequence

MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEK      1 - 70
FATLAELVQYYMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRES     71 - 140
QSHPGDFVLSVRTGDDKGESNDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVL    141 - 210
QLKQPLNTTRINAAEIESRVRELSKLAETTDKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYK    211 - 280
NILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNNSKPKKSYIATQGCLQNTVNDFWRMVFQENS    281 - 350
RVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRELKLSKVGQALLQGNTERTVW    351 - 420
QYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIREKGVDC    421 - 490
DIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGD    491 - 560
QSPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR                                     561 - 597
//

Text Mined References (594)

PMID Year Title