Property Summary

NCBI Gene PubMed Count 170
PubMed Score 289.32
PubTator Score 768.19

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Cleft Lip 141
Cleft Palate 271
Abnormally small eyeball 97
Accessory nipple 11
Agenesis of teeth 21
Anophthalmos 13
Aplasia Cutis Congenita 14
Atrophic condition of skin 25
Atypical scarring of skin 62
Auricular malformation 41
Bilateral fifth finger clinodactyly 110
Blepharoptosis 231
Branchial anomalies 1
Branchio-Oculo-Facial Syndrome 1
Broad flat nasal bridge 236
Broad nasal tip 28
Byzanthine arch palate 194
Cataract 297
Coloboma of iris 38
Concave bridge of nose 195
Conductive hearing loss 123
Congenital absence of kidney 31
Congenital scar 13
Congenital small ears 48
Cryptorchidism 296
Curvature of little finger 110
Cystic kidney 30
Decreased size of eyeball 97
Decreased size of teeth 62
Decreased width of tooth 59
Deep philtrum 21
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Duplication of internal organs 2
Ectopic thymus tissue 1
Epilepsy 792
Everted lower lip vermilion 54
Familial aplasia of the vermis 19
Fetal Growth Retardation 189
Fingernail dysplasia 6
Flexion contracture - elbow 32
Fundus coloboma 18
Fusion of middle ear ossicles 1
Gastroesophageal reflux disease 110
Hamartoma 3
Heartburn 78
Hemangioma 69
Hyperkyphosis 111
Hypernasal voice 39
Hypoplasia of forehead 2
Hypoplasia of thumb 26
Hypoplastic fingernails 11
Hypoplastic mandible condyle 275
Hypoplastic superior helix 4
Hypotrophic forehead 2
Hypotrophic malar bone 129
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Kyphosis deformity of spine 114
Lacrimal Duct Obstruction 16
Lens Opacities 231
Long narrow head 75
Lordosis 54
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lower lip pits 2
Malar flattening 129
Malrotation of colon 2
Mammary Neoplasms 425
Mandibular hypoplasia 275
Microdontia (disorder) 59
Micrognathism 275
Microphthalmos 100
Mild Mental Retardation 70
Myopia 176
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Nasal voice 39
Non-midline cleft lip 6
Nystagmus 317
Obstruction of nasolacrimal duct 9
Orbital separation excessive 244
Overfolded helix 24
Penile hypospadias 106
Polydactyly preaxial type 1 9
Postauricular fistula 1
Posteriorly rotated ear 61
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Premature canities 24
Protruding lower lip 54
Proximally placed thumbs 17
Pyloric Stenosis 47
Reduced number of teeth 21
Renal cyst 30
Schizophrenia 1160
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short nasal septum 2
Short neck 140
Short stature 531
Simple ear 41
Single transverse palmar crease 29
Small forehead 2
Small head 374
Speech Disorders 58
Strabismus 270
Supraauricular sinuses 1
Telecanthus 62
Tooth Abnormalities 69
Turridolichocephaly 75
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
White forelock 12
Wide spaced nipples 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count
Branchiooculofacial syndrome 13

Expression

  Differential Expression (19)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 2.600 4.4e-03
Breast cancer 3.500 2.9e-02
colon cancer 1.600 2.1e-04
cutaneous lupus erythematosus -1.300 2.5e-02
cystic fibrosis 3.805 3.3e-08
ductal carcinoma in situ 2.800 9.6e-03
interstitial cystitis -1.100 1.4e-03
intraductal papillary-mucinous carcinoma... 3.900 8.6e-04
invasive ductal carcinoma 3.200 2.5e-02
lung adenocarcinoma 1.400 1.1e-09
lung cancer 4.700 1.4e-07
non-small cell lung cancer 3.630 1.0e-26
oligodendroglioma 1.500 7.1e-07
osteosarcoma 1.125 1.3e-03
ovarian cancer 2.600 1.5e-04
pancreatic cancer 2.300 4.2e-08
psoriasis -3.500 6.2e-06
sonic hedgehog group medulloblastoma 2.400 8.0e-03
spina bifida -1.807 2.8e-02

Protein-protein Interaction (1)

Gene RIF (133)

AA Sequence

MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQ      1 - 70
DPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHAL     71 - 140
SSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEV    141 - 210
FCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGR    211 - 280
RKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTD    281 - 350
LLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNS    351 - 420
HTDNNAKSSDKEEKHRK                                                         421 - 437
//

Text Mined References (174)

PMID Year Title