Property Summary

NCBI Gene PubMed Count 305
PubMed Score 2312.44
PubTator Score 449.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
Abdomen distended 43
Abnormal foot bone ossification 3
Abnormal hand bone ossification 2
Abnormal maturation of foot bones 3
Abnormal ossification involving bones of the feet 3
Abnormal pigmentation 25
Abnormal skeletal development 60
Abnormal vertebral segmentation and fusion 5
Abnormality of metabolism/homeostasis 134
Abnormality of oral frenula 7
Abnormality of position of teeth 8
Abnormality of the fifth metatarsal bone 1
Abnormality of the metacarpal bones 17
Abnormality of the metaphyses 48
Abnormality of the ribs 32
Abnormally-shaped vertebrae 31
Absence of a tooth 6
Absent frontal sinuses 8
Absent/hypoplastic paranasal sinuses 5
Accessory carpal bone 2
Acquired flat foot 72
Acquired scoliosis 281
Acro-Osteolysis 12
Advanced bone age 35
Agenesis of teeth 21
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Ankle contracture 9
Antegonial notching of mandible 2
Anterior concavity of thoracic vertebrae 1
Anteriorly placed odontoid process 1
Aortic Valve Insufficiency 40
Aplasia of frontal sinus 8
Arachnodactyly 49
Auricular malformation 41
Bicuspid aortic valve 16
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Bowing of the long bones 31
Brachydactyly 156
Broad distal phalanx (thumb) 3
Broad face 7
Broad flat nasal bridge 236
Broad forehead 59
Broad hallux 29
Broad phalanges of the hand 2
Broad thumbs 28
Bulbous tips of toes 1
Bulging forehead 66
Byzanthine arch palate 194
Camptodactyly of toe 4
Capitate-hamate fusion 5
Cerebellar Hypoplasia 61
Cerebrovascular accident 63
Cleft Palate 271
Clinodactyly of toes 3
Coarse facial features 108
Coarse hair 31
Coat hanger sign of ribs 1
Cognitive delay 608
Coloboma of iris 38
Concave bridge of nose 195
Conductive hearing loss 123
Cone-shaped epiphyses of phalanges 15
Congenital anomaly of face 56
Congenital clubfoot 109
Congenital deafness 185
Congenital dislocation of radial head 14
Congenital dysplasia of cardiac valve 1
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of lung 48
Congenital malrotation of intestine 16
Congenital omphalocele 20
Congestive heart failure 113
Constipation 181
Cor pulmonale 6
Coxa valga 22
Coxa valga deformity 22
Craniofacial hyperostosis 11
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased joint mobility 53
Decreased platelet count 111
Decreased pneumatization of frontal sinus 6
Decreased projection of midface 105
Delayed closure of the soft spot on the skull 11
Delayed coalescence of calcaneal ossification centers 2
Delayed speech and language development 112
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental absence of tooth 7
Dilatation of ureter 15
Distortion of face 46
Downward slant of palpebral fissure 158
Dull intelligence 645
Dyschezia 135
Dysmorphic facies 46
Dystrophia unguium 53
Ectopic Tissue 14
Enlargement of craniofacial bones 11
Exophthalmos 112
FG syndrome 16
Failure of exfoliation of primary tooth 8
Failure to gain weight 365
Feeding difficulties in infancy 175
Femoral bowing 20
Fibroma 18
Fibular aplasia 6
Flared iliac wings 13
Flat face 52
Flatfoot 73
Flexion contracture - elbow 32
Flexion contracture - wrist 6
Flexion contracture of proximal interphalangeal joint 75
Frontal bossing 157
Funny looking face 46
Fused cervical vertebrae 5
Gait abnormality 135
Gastroesophageal reflux disease 110
Global developmental delay 608
Glossoptosis 10
Hearing Loss, Partial 185
Heart Septal Defects 24
Heart failure 162
Heart valve disease 39
Heartburn 78
Hernia 9
Hip Dislocation, Congenital 48
Hirsute forehead 1
Hirsutism 47
Hoarseness 31
Hydrocephalus 152
Hydronephrosis 89
HyperCalcification of skull base 5
HyperMineralization of skull base 5
Hyperplasia of foramen magnum 6
Hyperplasia of forehead 3
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of craniofacial bones 11
Hypertrophy of forehead 3
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypoplasia of muscle 5
Hypoplasia of thumb 26
Hypoplastic frontal sinuses 6
Hypoplastic ilia 12
Hypoplastic mandible condyle 275
Hypoplastic scapulae 14
Hypoplastic toes 29
Hypotrichosis 47
Hypotrophic frontal sinus 6
Hypotrophic malar bone 129
Hypotrophic midface 105
Idiopathic pulmonary arterial hypertension 40
Impaired cognition 96
Increased circumference of foramen magnum 6
Increased density of long bone diaphyses 1
Increased diameter of foramen magnum 6
Increased mean platelet volume 6
Increased thickness of cranium 17
Infantile onset 238
Intestinal hypoplasia 1
Intestinal pseudo-obstruction 12
Irregular metacarpals 2
Joint stiffness 84
Knee joint valgus deformity 56
Kyphoscoliosis deformity of spine 60
Language Delay 112
Large auricle 87
Large bregma sutures 46
Large dysplastic ears 87
Large fontanelle 46
Large foramen magnum 6
Large forehead 3
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Large, late-closing fontanelle 46
Late closure of anterior fontanel 11
Late fontanel closure 28
Late tooth eruption 61
Lateral femoral bowing 1
Limited elbow extension 19
Limited knee flexion 2
Lipoatrophy 19
Localized Skin Lesion 1
Long fingers 9
Long foot 8
Long metacarpals 2
Long neck 3
Long phalanx of finger 1
Low intelligence 645
Low set ears 181
Macrotia 87
Malar flattening 129
Malformations of Cortical Development, Group II 31
Malocclusion 57
Mammary Neoplasms 425
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Microstomia 78
Midface retrusion 105
Mild Mental Retardation 70
Misalignment of teeth 8
Missing all teeth 3
Missing more than six teeth 22
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Motor delay 147
Multiple buried teeth 2
Multiple impacted teeth 2
Nail dysplasia 52
Narrow thorax 53
Nasal bridge wide 236
Neonatal Hypotonia 64
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuronal intestinal pseudoobstruction 1
No development of motor milestones 147
Noisy respiration 5
Nonossified fifth metatarsal 1
OTOPALATODIGITAL SYNDROME, TYPE II 1
Oligodontia 24
Orbital separation excessive 244
Osteosclerosis 31
Overlapping fingers 10
Partial fusion of carpals 1
Partial fusion of tarsals 1
Patent ductus arteriosus 90
Pectus excavatum 100
Pediatric failure to thrive 365
Penile hypospadias 106
Periventricular Heterotopia, X-Linked 1
Periventricular neuronal heterotopia 6
Pierre Robin Syndrome 11
Platyspondyly 56
Pointed chin 33
Poor school performance 645
Posterior displacement of the tongue 10
Posterior vertebral hypoplasia 3
Posteriorly rotated ear 61
Postnatal growth retardation 57
Prominent back of the head 21
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent occiput 21
Prominent supraorbital ridges 19
Protruding eyes 96
Proximally placed thumbs 17
Pulmonary hypertension 86
Pyloric Stenosis 47
Radial bowing 13
Range of joint movement increased 32
Recurrent otitis media 42
Recurrent respiratory infections 141
Reduced number of teeth 21
Respiratory Failure 104
Rough hair texture 31
Rudimentary fibula 1
Sandal gap 24
Scapular weakness 23
Sclerosis of skull base 5
Second finger clinodactyly 5
Seizures 596
Seizures, Focal 14
Selective tooth agenesis 6
Sensorineural Hearing Loss (disorder) 284
Short 3rd metacarpals 1
Short 4th metacarpal 7
Short 5th metacarpal 5
Short chordae tendineae of the mitral valve 1
Short chordae tendineae of the tricuspid valve 1
Short distal phalanges 50
Short distal phalanx of hallux 2
Short hallux 16
Short hands 50
Short lower third of face 9
Short metacarpal 43
Short metatarsal 21
Short nose 132
Short ribs 30
Short stature 531
Short thumb terminal phalanx 5
Short upper arms 16
Simple ear 41
Skeletal muscle atrophy 139
Small chin 9
Small face 10
Small midface 105
Small nose 132
Small wings of the pelvic girdle 12
Smooth philtrum 43
Speech Delay 112
Speech impairment 112
Splayed metaphyses 19
Spondylolysis 14
Steep mandibular plane angle 1
Stenosis of ureter 2
Stillbirth 17
Strabismus 270
Stridor 5
Structure of wormian bone 24
Syndactyly of the toes 45
Synostosis of carpal bones 9
Terminal Osseous Dysplasia and Pigmentary Defects 1
Thick craniofacial bones 11
Thick skull base 2
Thickened calvaria 17
Thickened facial skin with coarse facial features 108
Thin skin 47
Thrombocytopenia 197
Tibial bowing 19
Toe curvature 3
Tooth Abnormalities 69
Tricuspid Valve Prolapse 3
Tricuspid valve insufficiency 14
Ulnar bowing 10
Ulnar deviation of the fingers 21
Ulnar polydactyly of fingers 47
Underdeveloped superior crus of antihelix 1
Undulate clavicles 1
Uranostaphyloschisis 167
Ureteral obstruction 33
Uroureter 15
VALVULAR ABNORMALITY 12
Vertical Talus 25
Vertical clivus 1
Vomiting 116
Wide anterior fontanel 44
Wide bregma sutures 46
Winged scapula 23
X- linked recessive 110
X-linked dominant 57
facial deformity 46
hearing impairment 199
muscle degeneration 139
pulmonary arterial hypertension 76

Expression

  Differential Expression (22)

Disease log2 FC p
diabetes mellitus -1.300 2.7e-02
acute myeloid leukemia 1.100 2.5e-02
adult high grade glioma 1.700 8.4e-05
astrocytic glioma 1.400 2.7e-03
Astrocytoma, Pilocytic 1.100 1.1e-04
atypical teratoid / rhabdoid tumor 2.400 1.0e-07
colon cancer -1.100 2.1e-03
ependymoma 2.200 1.2e-02
gastric carcinoma 1.400 2.8e-02
glioblastoma 1.700 1.8e-07
intraductal papillary-mucinous neoplasm ... -1.100 7.4e-03
lung carcinoma -2.100 3.9e-28
medulloblastoma 1.100 2.1e-02
oligodendroglioma 1.100 2.3e-03
osteosarcoma -1.043 4.9e-02
ovarian cancer 1.400 7.5e-04
pancreatic cancer 2.100 1.3e-04
primary pancreatic ductal adenocarcinoma 2.086 1.2e-04
primitive neuroectodermal tumor 1.300 7.0e-04
psoriasis -1.100 1.6e-02
spina bifida 1.328 4.2e-02
subependymal giant cell astrocytoma 1.465 9.6e-03

Protein-protein Interaction (1)

Gene RIF (200)

AA Sequence

MSSSHSRAGQSAAGAAPGGGVDTRDAEMPATEKDLAEDAPWKKIQQNTFTRWCNEHLKCVSKRIANLQTD      1 - 70
LSDGLRLIALLEVLSQKKMHRKHNQRPTFRQMQLENVSVALEFLDRESIKLVSIDSKAIVDGNLKLILGL     71 - 140
IWTLILHYSISMPMWDEEEDEEAKKQTPKQRLLGWIQNKLPQLPITNFSRDWQSGRALGALVDSCAPGLC    141 - 210
PDWDSWDASKPVTNAREAMQQADDWLGIPQVITPEEIVDPNVDEHSVMTYLSQFPKAKLKPGAPLRPKLN    211 - 280
PKKARAYGPGIEPTGNMVKKRAEFTVETRSAGQGEVLVYVEDPAGHQEEAKVTANNDKNRTFSVWYVPEV    281 - 350
TGTHKVTVLFAGQHIAKSPFEVYVDKSQGDASKVTAQGPGLEPSGNIANKTTYFEIFTAGAGTGEVEVVI    351 - 420
QDPMGQKGTVEPQLEARGDSTYRCSYQPTMEGVHTVHVTFAGVPIPRSPYTVTVGQACNPSACRAVGRGL    421 - 490
QPKGVRVKETADFKVYTKGAGSGELKVTVKGPKGEERVKQKDLGDGVYGFEYYPMVPGTYIVTITWGGQN    491 - 560
IGRSPFEVKVGTECGNQKVRAWGPGLEGGVVGKSADFVVEAIGDDVGTLGFSVEGPSQAKIECDDKGDGS    561 - 630
CDVRYWPQEAGEYAVHVLCNSEDIRLSPFMADIRDAPQDFHPDRVKARGPGLEKTGVAVNKPAEFTVDAK    631 - 700
HGGKAPLRVQVQDNEGCPVEALVKDNGNGTYSCSYVPRKPVKHTAMVSWGGVSIPNSPFRVNVGAGSHPN    701 - 770
KVKVYGPGVAKTGLKAHEPTYFTVDCAEAGQGDVSIGIKCAPGVVGPAEADIDFDIIRNDNDTFTVKYTP    771 - 840
RGAGSYTIMVLFADQATPTSPIRVKVEPSHDASKVKAEGPGLSRTGVELGKPTHFTVNAKAAGKGKLDVQ    841 - 910
FSGLTKGDAVRDVDIIDHHDNTYTVKYTPVQQGPVGVNVTYGGDPIPKSPFSVAVSPSLDLSKIKVSGLG    911 - 980
EKVDVGKDQEFTVKSKGAGGQGKVASKIVGPSGAAVPCKVEPGLGADNSVVRFLPREEGPYEVEVTYDGV    981 - 1050
PVPGSPFPLEAVAPTKPSKVKAFGPGLQGGSAGSPARFTIDTKGAGTGGLGLTVEGPCEAQLECLDNGDG   1051 - 1120
TCSVSYVPTEPGDYNINILFADTHIPGSPFKAHVVPCFDASKVKCSGPGLERATAGEVGQFQVDCSSAGS   1121 - 1190
AELTIEICSEAGLPAEVYIQDHGDGTHTITYIPLCPGAYTVTIKYGGQPVPNFPSKLQVEPAVDTSGVQC   1191 - 1260
YGPGIEGQGVFREATTEFSVDARALTQTGGPHVKARVANPSGNLTETYVQDRGDGMYKVEYTPYEEGLHS   1261 - 1330
VDVTYDGSPVPSSPFQVPVTEGCDPSRVRVHGPGIQSGTTNKPNKFTVETRGAGTGGLGLAVEGPSEAKM   1331 - 1400
SCMDNKDGSCSVEYIPYEAGTYSLNVTYGGHQVPGSPFKVPVHDVTDASKVKCSGPGLSPGMVRANLPQS   1401 - 1470
FQVDTSKAGVAPLQVKVQGPKGLVEPVDVVDNADGTQTVNYVPSREGPYSISVLYGDEEVPRSPFKVKVL   1471 - 1540
PTHDASKVKASGPGLNTTGVPASLPVEFTIDAKDAGEGLLAVQITDPEGKPKKTHIQDNHDGTYTVAYVP   1541 - 1610
DVTGRYTILIKYGGDEIPFSPYRVRAVPTGDASKCTVTVSIGGHGLGAGIGPTIQIGEETVITVDTKAAG   1611 - 1680
KGKVTCTVCTPDGSEVDVDVVENEDGTFDIFYTAPQPGKYVICVRFGGEHVPNSPFQVTALAGDQPSVQP   1681 - 1750
PLRSQQLAPQYTYAQGGQQTWAPERPLVGVNGLDVTSLRPFDLVIPFTIKKGEITGEVRMPSGKVAQPTI   1751 - 1820
TDNKDGTVTVRYAPSEAGLHEMDIRYDNMHIPGSPLQFYVDYVNCGHVTAYGPGLTHGVVNKPATFTVNT   1821 - 1890
KDAGEGGLSLAIEGPSKAEISCTDNQDGTCSVSYLPVLPGDYSILVKYNEQHVPGSPFTARVTGDDSMRM   1891 - 1960
SHLKVGSAADIPINISETDLSLLTATVVPPSGREEPCLLKRLRNGHVGISFVPKETGEHLVHVKKNGQHV   1961 - 2030
ASSPIPVVISQSEIGDASRVRVSGQGLHEGHTFEPAEFIIDTRDAGYGGLSLSIEGPSKVDINTEDLEDG   2031 - 2100
TCRVTYCPTEPGNYIINIKFADQHVPGSPFSVKVTGEGRVKESITRRRRAPSVANVGSHCDLSLKIPEIS   2101 - 2170
IQDMTAQVTSPSGKTHEAEIVEGENHTYCIRFVPAEMGTHTVSVKYKGQHVPGSPFQFTVGPLGEGGAHK   2171 - 2240
VRAGGPGLERAEAGVPAEFSIWTREAGAGGLAIAVEGPSKAEISFEDRKDGSCGVAYVVQEPGDYEVSVK   2241 - 2310
FNEEHIPDSPFVVPVASPSGDARRLTVSSLQESGLKVNQPASFAVSLNGAKGAIDAKVHSPSGALEECYV   2311 - 2380
TEIDQDKYAVRFIPRENGVYLIDVKFNGTHIPGSPFKIRVGEPGHGGDPGLVSAYGAGLEGGVTGNPAEF   2381 - 2450
VVNTSNAGAGALSVTIDGPSKVKMDCQECPEGYRVTYTPMAPGSYLISIKYGGPYHIGGSPFKAKVTGPR   2451 - 2520
LVSNHSLHETSSVFVDSLTKATCAPQHGAPGPGPADASKVVAKGLGLSKAYVGQKSSFTVDCSKAGNNML   2521 - 2590
LVGVHGPRTPCEEILVKHVGSRLYSVSYLLKDKGEYTLVVKWGDEHIPGSPYRVVVP                2591 - 2647
//

Text Mined References (330)

PMID Year Title