Property Summary

Ligand Count 156
NCBI Gene PubMed Count 520
PubMed Score 1210.62
PubTator Score 1106.77

Knowledge Summary

Patent (141,681)

TINX Plot

  Disease (10)

Disease Target Count
Syndactyly 88
Exophthalmos 112
Acanthosis Nigricans 27
Choanal Atresia 42
Hydrocephalus 152
Abnormality of cardiovascular system morphology 23
Abnormality of pelvic girdle bone morphology 37
Abnormality of skull shape 3
Abnormality of the antihelix 10
Abnormality of the nasolacrimal system 2
Abnormality of the nasopharynx 9
Abnormality of the palate 17
Abnormality of the pancreas 2
Abnormality of the periosteum 1
Abnormality of the ribs 32
Absence of Stensen duct 4
Absence of radius and ulna 15
Absence of septum pellucidum 13
Absence of the parotid gland 3
Absent auditory canals 23
Absent external auditory canals 23
Absent first metatarsal 2
Absent proximal phalanx of thumb 3
Absent radius 15
Acne 52
Acrobrachycephaly 1
Acrocephaly 12
Agenesis of corpus callosum 83
Agenesis of parotid duct 4
Agenesis of punctum lacrimale 4
Agenesis of teeth 21
Alacrima 9
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Ankylosis of the elbow joint 7
Anomalous tracheal cartilage 2
Anteriorly placed anus 7
Anteverted nostril 191
Antley-Bixler Syndrome, Autosomal Dominant 2
Apert syndrome 1
Aplasia of the parotid gland 3
Aplasia/Hypoplasia of the earlobes 10
Aqueductal Stenosis 5
Arachnodactyly 49
Arachnoid Cysts 5
Arnold Chiari Malformation 11
Arnold-Chiari Malformation, Type I 5
Asymmetrical skull 3
Asymmetry of the posterior cranium 20
Atresia of the external auditory canal 23
Atresia of vagina 10
Atretic auditory canal 23
Atrial Septal Defects 85
Auricular malformation 41
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Bicoronal synostosis 3
Bifid scrotum 16
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Bilateral triphalangeal thumbs 3
Bipolar Disorder 666
Blepharoptosis 231
Blepharospasm 13
Brachycephaly 88
Brachydactyly 156
Brachyturricephaly 4
Broad cranium shape 88
Broad distal hallux 1
Broad distal phalanx (thumb) 3
Broad forehead 59
Broad hallux 29
Broad hallux phalanx 8
Broad metatarsals 5
Broad thumbs 28
Bronchomalacia 7
Bunion 26
Byzanthine arch palate 194
CLEFT CHIN 9
Calcaneonavicular fusion 2
Capuchin ears 17
Cartilaginous trachea 2
Cerebellar Hypoplasia 61
Cervical C5/C6 vertebrae fusion 2
Cervical vertebral abnormalities 6
Choanal stenosis 11
Chronic otitis media 52
Class III malocclusion 78
Cleft uvula 27
Cloverleaf cranium shape 6
Cloverleaf skull 7
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Camptodactyly 40
Congenital Heart Defects 58
Congenital absence of kidney 31
Congenital anomaly of face 56
Congenital anomaly of the kidney 12
Congenital deafness 185
Congenital heart disease 93
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of radius 23
Congenital keratoglobus 14
Congenital small ears 48
Conjunctivitis 53
Conjunctivitis, recurrent 37
Convex nasal bridge 57
Convex nasal ridge 37
Corneal Ulcer 21
Corneal diameter increased 13
Coronal craniosynostosis 14
Coronal hypospadias 4
Craniofacial dysostosis type 1 2
Cryptorchidism 296
Cupped ears (finding) 17
Curvature of little finger 110
Cutaneous finger syndactyly 11
Cutis gyrata of palms and soles 2
Dacryocystitis 11
Deafness 198
Decreased joint mobility 53
Decreased projection of maxilla 66
Decreased projection of midface 105
Defective enamel matrix 35
Deficiency of upper jaw bones 66
Delayed eruption of primary teeth 10
Dental Enamel Hypoplasia 43
Dental caries 164
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Dermatologic disorders 93
Dextraposition of aorta 3
Dilated ventricles (finding) 121
Disproportionately short middle phalanges 6
Distortion of face 46
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysmorphic facies 46
Dysplasia of tooth enamel 35
Ectopic anus 1
Epilepsy 792
Epithelial corneal erosions 12
Esophageal atresia 43
Extramedullary Hematopoiesis (disorder) 5
Extramedullary erythropoiesis 5
Facial asymmetry 32
Feeding difficulties in infancy 175
Femoral bowing 20
Flat face 52
Flat forehead 5
Flattening of cranial vault 20
Flattening of head 20
Flattening of the zygomatic bone 22
Flexion contracture of proximal interphalangeal joint 75
Frontal bossing 157
Funny looking face 46
Furrowed palms and soles 4
Fused labia minora 5
Generalized osteopenia 99
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Globe of eye large 20
Hallux Valgus 26
Hallux Varus 3
Hearing Loss, Mixed Conductive-Sensorineural 12
Hearing Loss, Partial 185
Hearing abnormality 12
High forehead 102
Highly variable severity 157
Hirsutism 47
Hydronephrosis 89
Hydrophthalmos 19
Hypertensive disease 292
Hypertrophy of clitoris 40
Hypertrophy of lower jaw 78
Hypodontia 81
Hypoplasia of the lacrimal puncta 3
Hypoplasia of the maxilla 66
Hypoplasia of the zygomatic bone 22
Hypoplastic feet 66
Hypoplastic ischia 11
Hypoplastic lacrimal duct 3
Hypoplastic lacrimal gland 3
Hypoplastic mandible condyle 275
Hypotrophic cheekbone 22
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Inadequate arch length for tooth size 45
Incomplete ossification of pubis 1
Increase in blood pressure 119
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Interparietal craniosynostosis 6
Intracranial hypertension 32
Iridocele 3
Joint stiffness 84
Lacrimal Duct Obstruction 16
Lacrimal Puncta, Absence of 4
Lacrimal gland aplasia 3
Large auricle 87
Large bregma sutures 46
Large dysplastic ears 87
Large fontanelle 46
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Large, late-closing fontanelle 46
Laryngomalacia 14
Late fontanel closure 28
Late tooth eruption 61
Limbic malformations 1
Limited elbow extension 19
Long narrow head 75
Long nose 15
Long philtrum 137
Lordosis 54
Low Vision 174
Low anterior hairline 30
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Macrocephaly 11
Macrotia 87
Malar flattening 129
Malformation of skull shape 3
Malformed pinnae 37
Malocclusion 57
Mammary Neoplasms 425
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Maxillary retrognathia 66
Melanocytic nevus 43
Mental Depression 333
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metopic depression 1
Micrognathism 275
Micronychia (disorder) 24
Midface retrusion 105
Mild Mental Retardation 70
Moderate mental retardation (I.Q. 35-49) 28
Morphological abnormality of the semicircular canal 1
Multiple suture craniosynostosis 2
Multiple, subcutaneous nodules 53
Narrow cranium shape 75
Narrow head shape 75
Narrow internal auditory canal 8
Narrow nose 20
Narrow palate 20
Narrow pelvis 6
Narrow skull shape 75
Narrow thorax 53
Narrowing of ear canal 13
Natal Teeth 9
Night blindness, congenital stationary 16
Night blindness, congenital stationary, complete 10
Night blindness, stationary 10
Noncancerous mole 28
Nonorganic psychosis 84
Obstruction of nasolacrimal duct 9
Oguchi disease 10
Open Bite 21
Optic Atrophy 242
Orbital separation excessive 244
Osteopenia 99
Overfolding of the superior helices 4
Overriding aorta 3
Palmoplantar keratosis 74
Pancreatic Diseases 8
Parotid gland hypoplasia 3
Partial duplication of the distal phalanx of the 2nd finger 2
Partial duplication of the distal phalanx of the 3rd finger 2
Partial duplication of thumb phalanx 6
Peg shaped front tooth 6
Peg-shaped incisors 6
Periorbital fullness 9
Plagiocephaly 20
Pointed front tooth 6
Pointed incisor 6
Poor school performance 645
Posterior fossa cyst 8
Preauricular skin furrows 1
Prominent crus of helix 3
Prominent eyes 96
Prominent globes 96
Prominent nasal bridge 57
Prominent scrotal raphe 1
Protruding eyes 96
Psychotic Disorders 151
Pyloric Stenosis 47
Radial aplasia 15
Radial deviation of the 3rd finger 4
Radial polydactyly 8
Radial ray hypoplasia 23
Radiohumeral synostosis of elbow 8
Radioulnar synostosis 35
Ramer Ladda syndrome 8
Recurrent erosion of cornea 12
Reduced number of teeth 21
Respiratory distress 43
Retrusion of upper jaw bones 66
Rhomboid shaped head 20
Rotting teeth 73
Schizophrenia 1160
Seizures 596
Shallow orbits 13
Short hallux 16
Short hands 50
Short metatarsal 21
Short middle phalanx of toe 3
Short nose 132
Short stature 531
Short ulnae 24
Simple ear 41
Simple syndactyly of fingers - first web 9
Simple syndactyly of toes, first web space 23
Skin hyperelastic 32
Skull malformation 38
Sleep Apnea Syndromes 13
Small cheekbone 22
Small hand 36
Small labia majora 16
Small midface 105
Small nose 132
Soft calvaria 8
Somatic mutation 61
Steep acetabular roof 1
Stenosis of external auditory canal 13
Stomach Carcinoma 11
Strabismus 270
Subcoronal hypospadias 4
Subcutaneous nodule 53
Syndactyly of fingers 48
Syndactyly of the toes 45
Synostosis of carpal bones 9
Synostotic Posterior Plagiocephaly 8
Tall forehead 102
Telecanthus 62
Thenar hypoplasia 4
Thin dental enamel 35
Thumb absent or hypoplastic 9
Thumb deviation 1
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Tracheomalacia 22
Turridolichocephaly 75
ULNAR HYPOPLASIA 24
Ulnar bowing 10
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Upper airway obstruction 6
Uranostaphyloschisis 167
Variable expressivity 157
Ventricular Septal Defects 119
Vertical Talus 25
Visceral angiomatosis 13
Visual Impairment 174
Wide anterior fontanel 44
Wide bregma sutures 46
Wide skull shape 88
Widened metatarsal shaft 5
Xerostomia 42
abnormal growth 26
breast carcinoma 1638
ear infection chronic 52
facial deformity 46
hearing impairment 199
mandibular excess (physical finding) 78
nephrosclerosis 333
spina bifida 1074
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.7
Kidney cancer 2613 0.0 0.5
Liver cancer 604 0.0 0.7
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 3.31980385510677E-4
Gout 104 0.0 1.7
Orofacial cleft 54 0.0 0.7
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 5.0
Disease Target Count Z-score Confidence
Cancer 2499 5.209 2.6

Expression

  Differential Expression (25)

Disease log2 FC p
Breast cancer -1.700 3.3e-04
lung cancer -1.900 1.0e-03
breast carcinoma -1.300 1.4e-19
active ulcerative colitis -1.683 1.7e-02
adrenocortical carcinoma -1.709 2.3e-02
adult high grade glioma -1.200 8.6e-04
aldosterone-producing adenoma -1.140 3.2e-02
Astrocytoma, Pilocytic -2.400 4.1e-07
atypical teratoid / rhabdoid tumor 1.300 2.7e-03
colon cancer -3.100 1.3e-03
cutaneous lupus erythematosus -1.600 1.9e-03
Down syndrome 1.100 5.3e-04
glioblastoma -1.500 2.6e-04
group 3 medulloblastoma -3.600 4.8e-07
Hydrolethalus syndrome -2.085 4.8e-02
intraductal papillary-mucinous neoplasm ... 1.400 1.3e-02
lung adenocarcinoma -1.700 1.2e-13
lung carcinoma -2.400 9.2e-21
medulloblastoma, large-cell -2.000 1.2e-03
non primary Sjogren syndrome sicca 1.200 1.8e-02
oligodendroglioma -1.200 3.7e-07
osteosarcoma 2.438 1.3e-02
ovarian cancer 1.100 4.7e-02
posterior fossa group A ependymoma 1.100 2.8e-03
subependymal giant cell astrocytoma -2.698 2.2e-03

Gene

PDB

1NUN   1EV2   1II4   1IIL   2FDB   1DJS   1E0O   1GJO   1OEC   1WVZ   2PSQ   2PVF   2PVY   2PWL   2PY3   2PZ5   2PZP   2PZR   2Q0B   3B2T   3CAF   3CLY   3CU1   3DAR   3EUU   3OJ2   3OJM   3RI1   4J23   4J95   4J96   4J97   4J98   4J99   4WV1   5EG3   5UGL   5UGX   5UHN   5UI0  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 CSPA Cell Line (3)

Gene RIF (424)

AA Sequence

MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVI      1 - 70
SWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGA     71 - 140
EDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVR    141 - 210
NQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKV    211 - 280
YSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYTCLAGNSIGI    281 - 350
SFHSAWLTVLPAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTK    351 - 420
RIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEG    421 - 490
CFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPL    491 - 560
YVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKCIHRDLAAR    561 - 630
NVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLG    631 - 700
GSPYPGIPVEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEYL    701 - 770
DLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT                       771 - 821
//

Text Mined References (538)

PMID Year Title