Property Summary

NCBI Gene PubMed Count 26
PubMed Score 48.20
PubTator Score 22.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
'Whistling' appearance 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 6
Abnormal auditory evoked potential 7
Abnormal intrauterine movements 2
Abnormality of the hip bone 16
Absent interphalangeal creases 5
Acquired scoliosis 281
Adducted thumb 22
Aplasia of the interphalangeal creases 5
Arthrogryposis 54
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Bilateral single transverse palmar creases 34
Blepharophimosis 70
Blepharoptosis 231
Breech Presentation 10
Broad flat nasal bridge 236
Bulging forehead 66
Byzanthine arch palate 194
CLEFT CHIN 9
Calcaneovalgus deformity 8
Cerebellar degeneration 103
Class III malocclusion 78
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital deafness 185
Congenital ear anomaly NOS (disorder) 29
Congenital hemivertebra 25
Contracture of joint of hand 30
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Defect of vertebral segmentation 17
Dental abnormalities 60
Depressed nasal ridge 51
Dermatologic disorders 93
Distal arthrogryposis syndrome 8
Downward slant of palpebral fissure 158
Enophthalmos 75
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Fever 138
Flat face 52
Flexion contracture - elbow 32
Flexion contracture of hip 10
Flexion contracture of proximal interphalangeal joint 75
Flexion contracture-shoulder 3
Fused vertebrae 25
H-shaped chin dimple 1
Hearing Loss, Partial 185
Hernia, Inguinal 89
Hypernasal voice 39
Hypertrophy of lower jaw 78
Hypoplasia of the brainstem 22
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Increased size of mandible 78
Infratentorial atrophy 103
Joint stiffness 84
Kyphoscoliosis deformity of spine 60
Long philtrum 137
Low Birth Weights 69
Low-set, posteriorly rotated ears 110
Malar flattening 129
Malignant hyperpyrexia due to anesthesia 10
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mask-like facies 25
Metatarsus Varus 24
Micrognathism 275
Microstomia 78
Multiple Pterygium Syndrome, Autosomal Dominant 1
Multiple pterygia 4
Muscle Weakness 170
Narrow face 54
Nasal bridge wide 236
Nasal voice 39
Neck webbing 35
Orbital separation excessive 244
Overlapping fingers 10
Pediatric failure to thrive 365
Postnatal growth retardation 57
Prominent ear 56
Prominent forehead 66
Prominent nasolabial folds 5
Protruding ears 56
Radial aplasia/hypoplasia 29
Round ear 4
Seizures 596
Short neck 140
Short nose 132
Short stature 531
Skin Abnormalities 37
Small for gestational age (disorder) 69
Small head 374
Small nose 132
Speech Disorders 58
Spina bifida occulta 19
Spinal fusion 25
Strabismus 270
Sunken eyes 63
Talipes 20
Talipes foot deformities 20
Tarsal Coalition 12
Telecanthus 62
Thin face 54
Thin hypoplastic alae nasi 51
Toe contractures 5
Toeing-in 24
Tooth Abnormalities 69
Triangular face 58
Ulnar deviation of the fingers 21
Ulnar deviation of the hand or of fingers of the hand 4
Ulnar deviation of the wrist 8
Vertebral body fusion 25
Vertical Talus 25
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.8
Melanoma 711 0.0 0.5
Disease Target Count Z-score Confidence
Distal arthrogryposis 42 7.251 3.6

Expression

  Differential Expression (11)

Disease log2 FC p
acute quadriplegic myopathy 3.214 1.7e-05
Amyotrophic lateral sclerosis 1.284 3.1e-03
autosomal dominant Emery-Dreifuss muscul... 2.163 1.7e-02
Becker muscular dystrophy 4.138 1.1e-05
diabetes mellitus -2.000 7.0e-03
Duchenne muscular dystrophy 5.622 2.9e-13
juvenile dermatomyositis 3.539 2.3e-08
limb girdle muscular dystrophy 2A 4.271 1.3e-08
malignant mesothelioma 1.900 8.7e-07
osteosarcoma -2.130 2.9e-02
psoriasis -1.100 5.8e-03

Gene RIF (17)

AA Sequence

MSSDTEMEVFGIAAPFLRKSEKERIEAQNQPFDAKTYCFVVDSKEEYAKGKIKSSQDGKVTVETEDNRTL      1 - 70
VVKPEDVYAMNPPKFDRIEDMAMLTHLNEPAVLYNLKDRYTSWMIYTYSGLFCVTVNPYKWLPVYNPEVV     71 - 140
EGYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAATGDLAKKKD    141 - 210
SKMKGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKA    211 - 280
ERSYHIFYQILSNKKPELIELLLITTNPYDYPFISQGEILVASIDDAEELLATDSAIDILGFTPEEKSGL    281 - 350
YKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKTAYLMGLNSSDLLKALCFPRVKVGNEYVTKGQTVDQ    351 - 420
VHHAVNALSKSVYEKLFLWMVTRINQQLDTKLPRQHFIGVLDIAGFEIFEYNSLEQLCINFTNEKLQQFF    421 - 490
NHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGK    491 - 560
SNNFQKPKVVKGRAEAHFSLIHYAGTVDYSVSGWLEKNKDPLNETVVGLYQKSSNRLLAHLYATFATADA    561 - 630
DSGKKKVAKKKGSSFQTVSALFRENLNKLMSNLRTTHPHFVRCIIPNETKTPGAMEHSLVLHQLRCNGVL    631 - 700
EGIRICRKGFPNRILYGDFKQRYRVLNASAIPEGQFIDSKKACEKLLASIDIDHTQYKFGHTKVFFKAGL    701 - 770
LGTLEEMRDDRLAKLITRTQAVCRGFLMRVEFQKMVQRRESIFCIQYNIRSFMNVKHWPWMKLFFKIKPL    771 - 840
LKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKLVTLVQEKNDLQLQVQAESENLLDAEERCDQLI    841 - 910
KAKFQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLT    911 - 980
EELSGLDETIAKLTREKKALQEAHQQALDDLQAEEDKVNSLNKTKSKLEQQVEDLESSLEQEKKLRVDLE    981 - 1050
RNKRKLEGDLKLAQESILDLENDKQQLDERLKKKDFEYCQLQSKVEDEQTLGLQFQKKIKELQARIEELE   1051 - 1120
EEIEAERATRAKTEKQRSDYARELEELSERLEEAGGVTSTQIELNKKREAEFLKLRRDLEEATLQHEAMV   1121 - 1190
AALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLEIDDLSSSMESVSKSKANLEKICRTLEDQLSEA   1191 - 1260
RGKNEEIQRSLSELTTQKSRLQTEAGELSRQLEEKESIVSQLSRSKQAFTQQTEELKRQLEEENKAKNAL   1261 - 1330
AHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQD   1331 - 1400
SEEQVEAVNAKCASLEKTKQRLQGEVEDLMVDVERANSLAAALDKKQRNFDKVLAEWKTKCEESQAELEA   1401 - 1470
SLKESRSLSTELFKLKNAYEEALDQLETVKRENKNLEQEIADLTEQIAENGKTIHELEKSRKQIELEKAD   1471 - 1540
IQLALEEAEAALEHEEAKILRIQLELTQVKSEIDRKIAEKDEEIEQLKRNYQRTVETMQSALDAEVRSRN   1541 - 1610
EAIRLKKKMEGDLNEIEIQLSHANRQAAETLKHLRSVQGQLKDTQLHLDDALRGQEDLKEQLAIVERRAN   1611 - 1680
LLQAEVEELRATLEQTERARKLAEQELLDSNERVQLLHTQNTSLIHTKKKLETDLMQLQSEVEDASRDAR   1681 - 1750
NAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLETRI   1751 - 1820
RELEFELEGEQKKNTESVKGLRKYERRVKELTYQSEEDRKNVLRLQDLVDKLQVKVKSYKRQAEEADEQA   1821 - 1890
NAHLTKFRKAQHELEEAEERADIAESQVNKLRAKTRDFTSSRMVVHESEE                       1891 - 1940
//

Text Mined References (27)

PMID Year Title