Property Summary

NCBI Gene PubMed Count 214
PubMed Score 763.93
PubTator Score 438.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Congenital diaphragmatic hernia 67
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 21
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormal nasal morphology 16
Abnormal sex determination 11
Abnormality of the labia 9
Abnormality of the scrotum 9
Alcoholic Intoxication, Chronic 289
Ambiguous Genitalia 24
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Azoospermia 110
Bilateral fifth finger clinodactyly 110
Biparietal narrowing 28
Brachydactyly 156
Broad flat nasal bridge 236
Broad forehead 59
Byzanthine arch palate 194
Chromosome 8, monosomy 8p23 1 1
Cognitive delay 608
Congenital Epicanthus 177
Congenital hypoplasia of penis 176
Cryptorchidism 296
Curvature of little finger 110
Decreased fertility in females 20
Decreased testosterone in males 28
Decreased width of the skull 28
Delayed Puberty 97
Diaphragmatic Hernia 40
Elevated follicle stimulating hormone 15
Elevated luteinizing hormone 14
Endocardial Cushion Defects 17
Enlarged thorax 18
Epilepsy 792
Exophthalmos 112
Female external genitalia in males 13
Fetal Growth Retardation 189
Global developmental delay 608
Gonadal Dysgenesis 28
Gonadal Dysgenesis, Mixed 19
Gynecomastia 64
High forehead 102
Hypertrophy of clitoris 40
Hypoplasia of vagina 14
Hypoplastic mandible condyle 275
Hypospadias, perineal 5
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Long narrow head 75
Low serum estradiol levels 22
Low set ears 181
Male infertility 206
Malformed pinnae 37
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Mild Mental Retardation 70
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Osteoporosis 363
Ostium primum atrial septal defect 3
Ostium secundum atrial septal defect 9
Partial atrioventricular canal 5
Penile hypospadias 106
Poor speech 37
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Problems speaking 37
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Pulmonary artery stenosis 22
Pure gonadal dysgenesis 19
Rudimentary vagina 14
Seizures 596
Short neck 140
Short nose 132
Short stature 531
Small head 374
Small nose 132
Small penis 5
Small testicle 75
Sparse axillary hair 28
Sparse pubic hair 31
Streak ovary 15
Tall forehead 102
Tapering fingers (finding) 25
Testicular dysgenesis 9
Testicular regression syndrome 9
Thin lips 49
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Urogenital sinus anomaly 15
VENTRICULAR SEPTAL DEFECT 1 1
Ventricular Septal Defects 119
Weight decreased 103
Wide spaced nipples 46
Disease Target Count Z-score Confidence
Globe disease 67 0.0 1.1
Disease Target Count Z-score Confidence
Polycystic ovary syndrome 360 0.0 5.0
Right atrial isomerism 29 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 116 4.315 2.2
Atrial heart septal defect 18 0.0 4.0

Expression

  Differential Expression (6)

Disease log2 FC p
gastric carcinoma -1.100 7.3e-03
malignant mesothelioma 3.600 5.5e-09
ovarian cancer -3.300 1.6e-14
pancreatic cancer -1.400 3.5e-03
primary pancreatic ductal adenocarcinoma -1.268 1.3e-02
psoriasis 1.300 1.0e-02

Gene RIF (189)

AA Sequence

MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGS      1 - 70
SGGAASGAGPGTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAG     71 - 140
AGLAGREQYGRAGFAGSYSSPYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDD    141 - 210
FSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTT    211 - 280
LWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNS    281 - 350
SNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVLSALKLSPQGYASPVSQSPQT    351 - 420
SSKQDSWNSLVLADSHGDIITA                                                    421 - 442
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Text Mined References (219)

PMID Year Title