Property Summary

NCBI Gene PubMed Count 82
PubMed Score 0.00
PubTator Score 135.36

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Abnormal skeletal development 60
Abnormal vertebral bodies 16
Abnormality of the metacarpal bones 17
Abnormally small eyeball 97
Absence of radius and ulna 15
Absent carpal bones 2
Absent eyebrow 13
Absent eyelashes 16
Absent finger 4
Absent metacarpal(s) 1
Absent radius 15
Absent wrist bone 2
Acquired scoliosis 281
Agenesis of corpus callosum 83
Agenesis of eyebrows 13
Alopecia 115
Annular pancreas 12
Anodontia of Permanent Dentition 6
Anomalous splenoportal venous system 1
Anteriorly placed anus 7
Anus, Imperforate 46
Aphalangy of the hands 1
Aplasia of eyebrows 13
Aplasia of eyelashes 16
Atrophic condition of skin 25
Autosomal recessive predisposition 1442
Basal cell carcinoma 54
Basal cell nevi 23
Bicoronal synostosis 3
Blepharophimosis 70
Bowing of the long bones 31
Brachyturricephaly 4
Brittle hair 25
Byzanthine arch palate 194
Carpal bone anomalies 5
Carpal synostosis 12
Cataract 297
Choanal stenosis 11
Class III malocclusion 78
Cleft Palate 271
Cleft uvula 27
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital anomaly of spine 16
Congenital anomaly of the kidney 12
Congenital clubfoot 109
Congenital deafness 185
Congenital heart disease 93
Congenital hypoplasia of radius 23
Convex nasal bridge 57
Corneal diameter decreased 47
Coronal craniosynostosis 14
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased size of eyeball 97
Decreased size of teeth 62
Decreased width of tooth 59
Diarrhea 253
Downward slant of palpebral fissure 158
Dull intelligence 645
Dystrophia unguium 53
Epilepsy 792
Exophthalmos 112
Failure of development of eyelashes 16
Failure to thrive in infancy 32
Fetal Growth Retardation 189
Flat forehead 5
Forearm reduction defects 2
Fractured hair 25
Fragile hair 25
Frontal bossing 157
Glaucoma 239
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
High, narrow palate 32
Hydrocephalus 152
Hypertrophy of lower jaw 78
Hypogonadism 173
Hypoplasia of thumb 26
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypotrichosis 47
Increased size of mandible 78
Infant, Small for Gestational Age 176
Intellectual disability 1016
Interparietal craniosynostosis 6
Intrauterine retardation 176
Juvenile zonular cataracts 1
Kidney Diseases 114
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Late tooth eruption 61
Lens Opacities 231
Limited elbow movement 6
Limited shoulder movement 3
Long face 71
Low intelligence 645
Low-set, posteriorly rotated ears 110
Madarosis of eyebrow 13
Malabsorption 82
Malignant Squamous Cell Neoplasm 17
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Microcornea 47
Microdontia (disorder) 59
Micrognathism 275
Microphthalmos 100
Microstomia 78
Midface capillary hemangioma 1
Mottled pigmentation 4
Multiple vertebral anomalies 16
Myopia 176
Nail Diseases 24
Nail abnormality 22
Optic Atrophy 242
Orbital separation excessive 244
Osteochondrodysplasias 72
Osteoporosis 363
Palmoplantar keratosis 74
Patella aplasia-hypoplasia 12
Patellar hypoplasia 2
Perineal fistula 1
Photosensitivity of skin 51
Poikiloderma 14
Polymicrogyria 48
Poor growth 114
Poor school performance 645
Precociously senile appearance 18
Premature canities 24
Prominent eyes 96
Prominent globes 96
Prominent nasal bridge 57
Protruding eyes 96
Radial aplasia 15
Radial aplasia/hypoplasia 29
Radial ray hypoplasia 23
Rectovaginal Fistula 5
Reduced tensile strength of hair 25
Rib fusion 16
Saddle nose 6
Seizures 596
Short hands 50
Short lower third of face 9
Short nose 132
Short stature 531
Short ulnae 24
Short upper arms 16
Slender nose 3
Small chin 9
Small hand 36
Small nose 132
Sparse hair 59
Spider Veins 17
Spina bifida occulta 19
Squamous cell carcinoma 129
Stiff interphalangeal joints 1
Stippled pigmentation 4
Strabismus 270
Synostotic Posterior Plagiocephaly 8
Telangiectasis 36
Thin hypoplastic alae nasi 51
Thin, sparse hair 59
Thumb absent or hypoplastic 9
Thumb aplasia 16
Tooth absent 6
Tooth hypoplasia 7
Tooth, Supernumerary 7
ULNAR HYPOPLASIA 24
Ulnar bowing 10
Uranostaphyloschisis 167
Very poor growth 114
Wide bregma sutures 46
hearing impairment 199
mandibular excess (physical finding) 78
osteosarcoma 7950

Gene RIF (66)

AA Sequence

MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLRSSESLPAAAE      1 - 70
EAPEPRCWGPHLNRAATKSPQPTPGRSRQGSVPDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTP     71 - 140
KPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPDFLGAPKACRP    141 - 210
DLGSEESQLLIPGESAVLGPGAGSQGPEASAFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESS    211 - 280
QAGPPSEGAGAVAVEEDPPGEPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDR    281 - 350
GNYVRLNMKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPA    351 - 420
SEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVM    421 - 490
RILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRK    491 - 560
QRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRVCKVLRE    561 - 630
RMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNL    631 - 700
DSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVA    701 - 770
TVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFL    771 - 840
AVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTV    841 - 910
QALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQQLPEDPGQ    911 - 980
GSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQ    981 - 1050
ICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGME   1051 - 1120
DAQGPEPGQARLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHL   1121 - 1190
SFHALVGLATEELLQVAR                                                       1191 - 1208
//

Text Mined References (81)

PMID Year Title